ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1811C>T (p.Thr604Met) (rs373360192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538367 SCV000638872 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 604 of the PKP2 protein (p.Thr604Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs373360192, ExAC 0.01%). This variant has not been reported in the literature in individuals with PKP2-related disease. ClinVar contains an entry for this variant (Variation ID: 464414). 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.
Ambry Genetics RCV000618135 SCV000737647 uncertain significance Cardiovascular phenotype 2018-05-21 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000776328 SCV000911662 uncertain significance Cardiomyopathy 2020-04-29 criteria provided, single submitter clinical testing

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