NM_000539.3(RHO):c.316G>A (p.Gly106Arg) AND Retinitis pigmentosa 4

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Apr 8, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000013913.28

Allele description [Variation Report for NM_000539.3(RHO):c.316G>A (p.Gly106Arg)]

NM_000539.3(RHO):c.316G>A (p.Gly106Arg)

Gene:

RHO:rhodopsin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q22.1

Genomic location:

Preferred name:

NM_000539.3(RHO):c.316G>A (p.Gly106Arg)

Other names:

NP_000530.1:p.(Gly106Arg)

HGVS:

NC_000003.12:g.129529049G>A
NG_009115.1:g.5411G>A
NM_000539.3:c.316G>AMANE SELECT
NP_000530.1:p.Gly106Arg
NC_000003.11:g.129247892G>A
P08100:p.Gly106Arg

Protein change:

G106R; GLY106ARG

Links:

UniProtKB: P08100#VAR_004786; OMIM: 180380.0025; dbSNP: rs104893773

NCBI 1000 Genomes Browser:

rs104893773

Molecular consequence:

NM_000539.3:c.316G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Retinitis pigmentosa 4 (RP4)
Synonyms:: RP 4; RETINITIS PIGMENTOSA, RHODOPSIN-RELATED
Identifiers:: MONDO: MONDO:0013395; MedGen: C3151001; Orphanet: 791; OMIM: 613731

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000034160	OMIM	no assertion criteria provided	Pathogenic (Aug 1, 1993)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8328469, 1580841
SCV001443208	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 1, 2020)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001573345	Ocular Genomics Institute, Massachusetts Eye and Ear	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 8, 2021)	germline	research	PubMed (9) [See all records that cite these PMIDs] 30718709, 28559085, 24520188, 11094174, 8905849, 8328469, 1580841, 1301135, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000034160

OMIM

no assertion criteria provided

Pathogenic
(Aug 1, 1993)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

SCV001443208

Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 1, 2020)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001573345

Ocular Genomics Institute, Massachusetts Eye and Ear

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 8, 2021)

germline

research

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	3	not provided	not provided	not provided	not provided	clinical testing, research

Citations

PubMed

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C, Fang M, Bertelsen M, Dang X, Jensen H, Chen Y, Bech N, Dai L, Rosenberg T, Zhang J, Møller LB, Tümer Z, Brøndum-Nielsen K, Grønskov K.

Sci Rep. 2019 Feb 4;9(1):1219. doi: 10.1038/s41598-018-38007-2.

PubMed [citation]

PMID:: 30718709
PMCID:: PMC6362094

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA.

Ophthalmology. 2017 Sep;124(9):1314-1331. doi: 10.1016/j.ophtha.2017.04.008. Epub 2017 May 27.

PubMed [citation]

PMID:: 28559085
PMCID:: PMC5565704

See all PubMed Citations (9)

Details of each submission

From OMIM, SCV000034160.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a family with autosomal dominant RP (RP4; 613731), Inglehearn et al. (1992) found a GGG-to-AGG mutation at codon 106 of the RHO gene, resulting in substitution of arginine for glycine (G106R).

Fishman et al. (1992) found a gly106-to-arg mutation in the RHO gene in 3 members of one family and in 1 person of another family. All affected persons had a distinctive phenotype that included a regional predilection for pigmentary changes to occur in the inferior retina as well as visual field impairment predominantly in the superior hemisphere. Substantial residual electroretinographic amplitudes with normal implicit times were also consistent with a form of 'sector' retinitis pigmentosa. Thus the specific mutation appears to be associated with a better visual prognosis.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV001443208.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	3	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		3	not provided	not provided	not provided

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573345.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (9)

Description

The RHO c.316G>A variant was identified in an individual with retinitis pigmentosa with a presumed dominant inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PP1-S, PS3. Based on this evidence we have classified this variant as Pathogenic.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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