ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7154G>A (p.Arg2385His)

dbSNP: rs1396768987
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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 RCV000806125 SCV000946107 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-09-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003532273 SCV004363493 uncertain significance Cardiomyopathy 2022-11-07 criteria provided, single submitter clinical testing This missense variant replaces arginine with histidine at codon 2385 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 DSP-related disorders in the literature. This variant has been identified in 1/251422 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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