ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly)

dbSNP: rs1759583033
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057280 SCV001221764 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2023-08-03 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 852629). This missense change has been observed in individual(s) with clinical features of DSP-related conditions (PMID: 35348702). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2535 of the DSP protein (p.Asp2535Gly). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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