ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.2150C>T (p.Pro717Leu) (rs144018320)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415701 SCV000493779 uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-03-30 criteria provided, single submitter clinical testing
Invitae RCV000415701 SCV000557333 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2016-08-26 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 uncertain significance Cardiovascular phenotype 2017-07-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000777608 SCV000913475 likely benign Cardiomyopathy 2018-10-03 criteria provided, single submitter clinical testing

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