ClinVar Miner

Submissions for variant NM_024422.6(DSC2):c.1715A>G (p.Asp572Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV005401003 SCV006062075 uncertain significance Cardiomyopathy 2024-06-25 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with glycine at codon 572 of the DSC2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with primary cardiomyopathy (PMID: 37477868). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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