ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) (rs144018320)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000415701 SCV000557333 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2019-12-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000599924 SCV000711404 uncertain significance not specified 2017-05-16 criteria provided, single submitter clinical testing The p.Pro717Leu variant in PKP2 has been reported in 1 adult with arrhythmogenic right ventricular cardiomyopathy (AVRC) (Ohno 2013). This variant has also been identified in 0.1% (24/18868) of East Asian chromosomes by the Genome Aggregati on Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs144018320). This variant has been reported in Clinvar: (Variant ID 374966) with conflicting inter pretations. Computational prediction tools and conservation analysis suggest tha t the p.Pro717Leu variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signifi cance of the p.Pro717Leu variant is uncertain.
Ambry Genetics RCV000618843 SCV000736219 likely benign Cardiovascular phenotype 2019-06-18 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)
Color RCV000777608 SCV000913475 likely benign Cardiomyopathy 2018-10-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000415701 SCV001266714 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2018-10-26 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415701 SCV000493779 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-03-30 no assertion criteria provided clinical testing

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