ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro)

dbSNP: rs1759514959
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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 RCV001364383 SCV001560528 uncertain significance Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 2020-08-14 criteria provided, single submitter clinical testing 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DSP-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 2030 of the DSP protein (p.Ser2030Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003388004 SCV004100129 uncertain significance not specified 2023-09-03 criteria provided, single submitter clinical testing

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