ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1379-2103A>G

gnomAD frequency: 0.00002  dbSNP: rs764608036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001191843 SCV001359758 likely benign Cardiomyopathy 2018-11-26 criteria provided, single submitter clinical testing
Invitae RCV001321098 SCV001511913 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-07-28 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 928157). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. This variant is present in population databases (rs764608036, gnomAD 0.01%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 462 of the PKP2 protein (p.Thr462Ala).
Ambry Genetics RCV002379744 SCV002702591 likely benign Cardiovascular phenotype 2022-01-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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