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NM_024422.6(DSC2):c.658G>A (p.Gly220Arg) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2024
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:
RCV002375101.3

Allele description [Variation Report for NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)]

NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)

Gene:
DSC2:desmocollin 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
HGVS:
  • NC_000018.10:g.31087786C>T
  • NG_008208.2:g.19640G>A
  • NM_004949.5:c.658G>A
  • NM_024422.6:c.658G>AMANE SELECT
  • NP_004940.1:p.Gly220Arg
  • NP_077740.1:p.Gly220Arg
  • LRG_400:g.19640G>A
  • NC_000018.9:g.28667749C>T
  • NC_000018.9:g.28667749C>T
  • NM_024422.3:c.658G>A
Protein change:
G220R
Links:
dbSNP: rs750961818
NCBI 1000 Genomes Browser:
rs750961818
Molecular consequence:
  • NM_004949.5:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_024422.6:c.658G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002667609Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 11, 2024) 		germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Tan BY, Jain R, den Haan AD, Chen Y, Dalal D, Tandri H, Amat-Alarcon N, Daly A, Tichnell C, James C, Calkins H, Judge DP.

J Cardiovasc Transl Res. 2010 Dec;3(6):663-73. doi: 10.1007/s12265-010-9224-4. Epub 2010 Sep 21.

PubMed [citation]
PMID:
20857253
PMCID:
PMC3138067

Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.

Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H.

Circ Arrhythm Electrophysiol. 2013 Jun;6(3):569-78. doi: 10.1161/CIRCEP.113.000233. Epub 2013 May 13.

PubMed [citation]
PMID:
23671136
See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV002667609.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

The p.G220R variant (also known as c.658G>A), located in coding exon 6 of the DSC2 gene, results from a G to A substitution at nucleotide position 658. The glycine at codon 220 is replaced by arginine, an amino acid with dissimilar properties. This alteration has been reported several times in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) cohorts, but clinical details were limited and the study cohorts overlapped (Tan BY et al. J Cardiovasc Transl Res. 2010;3:663-73; Bhonsale A et al. Circ Arrhythm Electrophysiol. 2013;6:569-78; te Riele AS et al. J. Am. Coll. Cardiol. 2013;62:1761-9; Groeneweg JA et al. Circ Cardiovasc Genet. 2015;8:437-46). This amino acid position is highly conserved in available vertebrate species; however, arginine is the reference amino acid in other vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024