ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)

dbSNP: rs1759605211
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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 RCV001052193 SCV001216392 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2019-11-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DSP-related conditions. This sequence change replaces glycine with aspartic acid at codon 2636 of the DSP protein (p.Gly2636Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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: "Possibly 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.

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