ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr)

dbSNP: rs777066674
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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 RCV001881170 SCV002143115 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2022-03-08 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 2608 of the DSP protein (p.Ser2608Tyr). This variant is present in population databases (rs777066674, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with DSP-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003164258 SCV003867617 uncertain significance Cardiovascular phenotype 2023-02-25 criteria provided, single submitter clinical testing The p.S2608Y variant (also known as c.7823C>A), located in coding exon 24 of the DSP gene, results from a C to A substitution at nucleotide position 7823. The serine at codon 2608 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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