ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)

gnomAD frequency: 0.00001  dbSNP: rs139486943
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001066084 SCV001231079 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2025-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180414 SCV001345342 uncertain significance Cardiomyopathy 2023-06-08 criteria provided, single submitter clinical testing This missense variant replaces glycine with serine at codon 2568 of the DSP protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with arrhythmogenic right ventricular cardiomyopathy (PMID: 28767663). This variant has been identified in 5/251494 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.
Ambry Genetics RCV002402457 SCV002674428 likely benign Cardiovascular phenotype 2023-11-30 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 RCV003442192 SCV004170088 uncertain significance not provided 2023-10-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Reported in a patient who met Task Force criteria for ARVC; however, the authors considered this variant a rare polymorphism (Fedida et al., 2017); This variant is associated with the following publications: (PMID: 28767663)

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