ClinVar Miner

Submissions for variant NM_001943.5(DSG2):c.1110T>C (p.Pro370=)

gnomAD frequency: 0.00004  dbSNP: rs772805008
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433979 SCV000527216 likely benign not specified 2018-02-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000642339 SCV000764008 likely benign Arrhythmogenic right ventricular dysplasia 10 2023-11-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001177695 SCV001341951 likely benign Cardiomyopathy 2019-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429407 SCV002743580 likely benign Cardiovascular phenotype 2020-02-19 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.
All of Us Research Program, National Institutes of Health RCV004000432 SCV004819511 likely benign Arrhythmogenic right ventricular cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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