ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1583C>T (p.Thr528Met) (rs774942476)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621544 SCV000736816 uncertain significance Cardiovascular phenotype 2018-12-31 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001045663 SCV001209529 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 528 of the PKP2 protein (p.Thr528Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs774942476, ExAC 0.005%). This variant has not been reported in the literature in individuals with PKP2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Color RCV001187321 SCV001354091 uncertain significance Cardiomyopathy 2020-01-22 criteria provided, single submitter clinical testing

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