ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.497C>T (p.Ser166Phe)

dbSNP: rs1060500620
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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 RCV000461654 SCV000543279 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2016-11-26 criteria provided, single submitter clinical testing This sequence change replaces serine with phenylalanine at codon 166 of the DSP protein (p.Ser166Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DSP-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004000649 SCV004818681 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 2023-03-28 criteria provided, single submitter clinical testing

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