ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.275T>C (p.Leu92Ser)

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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 RCV003835096 SCV004638217 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-09-23 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 92 of the PKP2 protein (p.Leu92Ser). This variant is present in population databases (rs763639737, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. 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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