ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1552G>C (p.Val518Leu)

gnomAD frequency: 0.00004  dbSNP: rs397517394
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039410 SCV000063094 likely benign not specified 2024-02-27 criteria provided, single submitter clinical testing Thep.Val518Leu variant in DSC2 is classified as likely benign because it has been identified in 0.14% (85/60010) of Admixed American chromosomes by gnomAD (http://gnomad.broadinstitute.org, v.4.0.0). Computational prediction tools and conservation analyses suggest that this variant may not impact the protein. ACMG/AMP Criteria applied: BS1, BP4.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000039410 SCV000258006 uncertain significance not specified 2015-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000540622 SCV000644992 likely benign Arrhythmogenic right ventricular dysplasia 11 2023-12-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001186899 SCV001353508 likely benign Cardiomyopathy 2019-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002399383 SCV002704873 likely benign Cardiovascular phenotype 2019-08-21 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.

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