NM_001943.5(DSG2):c.875G>A (p.Arg292His) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 18, 2021
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:: RCV000767197.10

Allele description [Variation Report for NM_001943.5(DSG2):c.875G>A (p.Arg292His)]

NM_001943.5(DSG2):c.875G>A (p.Arg292His)

Gene:

DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001943.5(DSG2):c.875G>A (p.Arg292His)

HGVS:

NC_000018.10:g.31524749G>A
NG_007072.3:g.31508G>A
NM_001943.5:c.875G>AMANE SELECT
NP_001934.2:p.Arg292His
LRG_397t1:c.875G>A
LRG_397:g.31508G>A
NC_000018.9:g.29104712G>A
NM_001943.3:c.875G>A
NM_001943.4:c.875G>A
c.875G>A

Protein change:

R292H

Links:

dbSNP: rs185821167

NCBI 1000 Genomes Browser:

rs185821167

Molecular consequence:

NM_001943.5:c.875G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000622048	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 18, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000622048

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 18, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000622048.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Reported in several patients with ARVC who also harbor a second potentially disease-causing variant in the DSG2 gene (Segura-Rodriguez et al., 2020); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 44330; Landrum et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25172079, 31702781, 27535533, 21606396, 26383259)

#	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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