ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002364446 SCV002664811 uncertain significance Cardiovascular phenotype 2020-09-11 criteria provided, single submitter clinical testing The p.R219K variant (also known as c.656G>A), located in coding exon 3 of the PKP2 gene, results from a G to A substitution at nucleotide position 656. The arginine at codon 219 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003098291 SCV003519827 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2022-01-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 219 of the PKP2 protein (p.Arg219Lys). This variant is present in population databases (rs760774269, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with PKP2-related conditions. 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 tolerated. 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.

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