ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2993A>T (p.Asp998Val)

gnomAD frequency: 0.00001  dbSNP: rs752344739
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308880 SCV001498355 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-07-11 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001806108 SCV002052735 uncertain significance Cardiomyopathy 2021-03-16 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with valine at codon 998 of the DSP 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 not been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/251262 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.

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