ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.8021C>G (p.Ala2674Gly)

dbSNP: rs778480531
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
AiLife Diagnostics, AiLife Diagnostics RCV002223582 SCV002501311 uncertain significance not provided 2022-02-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003101274 SCV003280293 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-08-25 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004005540 SCV004825682 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2024-05-30 criteria provided, single submitter clinical testing This missense variant replaces alanine with glycine at codon 2674 of the DSP protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 1/251028 chromosomes 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.
GeneDx RCV002223582 SCV005888802 uncertain significance not provided 2024-09-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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