ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)

gnomAD frequency: 0.00093  dbSNP: rs568391206
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001535410 SCV000233448 likely benign not provided 2020-02-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21636032, 25351510)
Invitae RCV001085942 SCV000551489 likely benign Arrhythmogenic right ventricular dysplasia 11 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000181171 SCV000699499 benign not specified 2020-08-31 criteria provided, single submitter clinical testing Variant summary: DSC2 c.34G>A (p.Gly12Arg) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 0.00019 in 123860 control chromosomes. The observed variant frequency is approximately 19 fold of the estimated maximal expected allele frequency for a pathogenic variant in DSC2 causing Arrhythmia phenotype (1e-05), strongly suggesting that the variant is benign. c.34G>A has been reported in the literature in individuals affected with Cardiovascular disease. These reports do not provide unequivocal conclusions about association of the variant with Cardiovascular disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171303 SCV001334030 benign Cardiomyopathy 2018-08-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453642 SCV002614714 likely benign Cardiovascular phenotype 2019-08-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV001171303 SCV004363144 likely benign Cardiomyopathy 2022-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003947543 SCV004757446 likely benign DSC2-related disorder 2022-12-17 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003996606 SCV004823306 likely benign Familial isolated arrhythmogenic right ventricular dysplasia 2024-01-11 criteria provided, single submitter clinical testing

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