ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys)

gnomAD frequency: 0.00001  dbSNP: rs193922673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179252 SCV001343863 uncertain significance Cardiomyopathy 2023-02-02 criteria provided, single submitter clinical testing This missense variant replaces tryptophan with cysteine at codon 676 of the PKP2 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Invitae RCV001372105 SCV001568706 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2023-08-02 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 676 of the PKP2 protein (p.Trp676Cys). This variant is not present in population databases (gnomAD no frequency). 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. 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: 920494). This variant has not been reported in the literature in individuals affected with PKP2-related conditions.

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