ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.514A>C (p.Ser172Arg)

dbSNP: rs2137949935
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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 RCV002006477 SCV002268538 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2022-12-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 172 of the PKP2 protein (p.Ser172Arg). This missense change has been observed in individual(s) with clinical features of PKP2-related conditions (PMID: 27532257; Inviate). 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"). ClinVar contains an entry for this variant (Variation ID: 1487460).

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