ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)

gnomAD frequency: 0.00002  dbSNP: rs779878192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001180352 SCV001345264 uncertain significance Cardiomyopathy 2023-03-31 criteria provided, single submitter clinical testing This missense variant replaces cysteine with tyrosine at codon 954 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 not been reported in individuals affected with DSP-related disorders in the literature. This variant has been identified in 4/280978 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 RCV002436745 SCV002749812 uncertain significance Cardiovascular phenotype 2021-10-26 criteria provided, single submitter clinical testing The p.C954Y variant (also known as c.2861G>A), located in coding exon 20 of the DSP gene, results from a G to A substitution at nucleotide position 2861. The cysteine at codon 954 is replaced by tyrosine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002560800 SCV003254811 likely benign Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2024-08-31 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003145367 SCV003829143 uncertain significance not provided 2023-12-01 criteria provided, single submitter clinical testing

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