ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) (rs201580443)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000214518 SCV000272311 benign not specified 2019-10-18 criteria provided, single submitter clinical testing proposed classification - variant undergoing re-assessment, contact laboratory
Invitae RCV000231364 SCV000288609 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000214518 SCV000618267 uncertain significance not specified 2017-08-11 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the PKP2 gene. The T242M variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 0.1% alleles from individuals of East Asian ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Additionally, Kapplinger et al. (2011) observed the T242M variant in one ostensibly healthy control individual. This substitution occurs at a position that is not conserved across species and where methionine (M) is present as the wild type in at least one species. In silico analysis suggests that this variant likely does not alter the protein structure/function. Nevertheless, the T242M variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties.
Ambry Genetics RCV000618864 SCV000738157 uncertain significance Cardiovascular phenotype 2017-09-08 criteria provided, single submitter clinical testing Insufficient evidence
Illumina Clinical Services Laboratory,Illumina RCV000231364 SCV001269902 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color RCV001176809 SCV001340868 uncertain significance Cardiomyopathy 2019-08-26 criteria provided, single submitter clinical testing

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