ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1456G>A (p.Val486Met)

gnomAD frequency: 0.00002  dbSNP: rs188634770
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000794296 SCV000933694 uncertain significance Arrhythmogenic right ventricular dysplasia 11 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 486 of the DSC2 protein (p.Val486Met). This variant is present in population databases (rs188634770, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 641127). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Diagnostics, LLC DBA Color Health RCV001189284 SCV001356543 likely benign Cardiomyopathy 2021-05-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307431 SCV003990553 likely benign Cardiovascular phenotype 2023-06-05 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.
GeneDx RCV003442074 SCV004168765 uncertain significance not provided 2023-04-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Mayo Clinic Laboratories, Mayo Clinic RCV003442074 SCV004224471 uncertain significance not provided 2023-04-26 criteria provided, single submitter clinical testing BP4

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