NM_001937.5(DPT):c.544C>T (p.Arg182Cys) AND Progressive sensorineural hearing impairment

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000416574.2

Allele description [Variation Report for NM_001937.5(DPT):c.544C>T (p.Arg182Cys)]

NM_001937.5(DPT):c.544C>T (p.Arg182Cys)

Gene:

DPT:dermatopontin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q24.2

Genomic location:

Preferred name:

NM_001937.5(DPT):c.544C>T (p.Arg182Cys)

HGVS:

NC_000001.11:g.168696611G>A
NM_001937.5:c.544C>TMANE SELECT
NP_001928.2:p.Arg182Cys
NC_000001.10:g.168665849G>A
NM_001937.4:c.544C>T

Protein change:

R182C

Links:

dbSNP: rs748718975

NCBI 1000 Genomes Browser:

rs748718975

Molecular consequence:

NM_001937.5:c.544C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Progressive sensorineural hearing impairment
Identifiers:: MedGen: C1843156; Human Phenotype Ontology: HP:0000408

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266469	Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)	criteria provided, single submitter (Martin-Sierra et al. (Eur J Hum Genet. 2017))	Pathogenic (Mar 1, 2016)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266469

Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)

criteria provided, single submitter

(Martin-Sierra et al. (Eur J Hum Genet. 2017))

Pathogenic
(Mar 1, 2016)

inherited

research

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	8	1	not provided	not provided	not provided	research

Citations

PubMed

Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.

Martín-Sierra C, Gallego-Martinez A, Requena T, Frejo L, Batuecas-Caletrío A, Lopez-Escamez JA.

Eur J Hum Genet. 2017 Feb;25(2):200-207. doi: 10.1038/ejhg.2016.154. Epub 2016 Nov 23.

PubMed [citation]

PMID:: 27876815
PMCID:: PMC5255954

Details of each submission

From Otology & Neurotology- Genomics of vestibular disorders (CTS-495), Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO), SCV000266469.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	8	not provided	not provided	research	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		8	not provided	1	not provided

Last Updated: Jun 24, 2022

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