ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1993C>T (p.Leu665Phe)

dbSNP: rs397517018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766578 SCV000236249 uncertain significance not provided 2023-01-30 criteria provided, single submitter clinical testing Has been reported in an individual with arrhythmogenic cardiomyopathy (Dries et al., 2021); Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34120153)
Invitae RCV000550372 SCV000638881 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-06-04 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 45060). This missense change has been observed in individual(s) with clinical features of PKP2-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 709 of the PKP2 protein (p.Leu709Phe). 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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038200 SCV000061867 uncertain significance not specified 2009-06-08 no assertion criteria provided clinical testing

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