ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.15G>C (p.Pro5=)

gnomAD frequency: 0.00006  dbSNP: rs772663614
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000399604 SCV000408192 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000282053 SCV000408193 uncertain significance Arrhythmogenic right ventricular cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000465166 SCV000561376 likely benign Arrhythmogenic right ventricular dysplasia 10 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619354 SCV000736932 likely benign Cardiovascular phenotype 2017-11-24 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 RCV001175619 SCV001339288 likely benign Cardiomyopathy 2018-11-18 criteria provided, single submitter clinical testing
GeneDx RCV001636922 SCV001849350 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001636922 SCV004033608 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing DSG2: BP4, BP7
All of Us Research Program, National Institutes of Health RCV000282053 SCV004819400 likely benign Arrhythmogenic right ventricular cardiomyopathy 2024-01-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940296 SCV004763971 likely benign DSG2-related disorder 2019-02-22 no assertion criteria provided 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).

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