ClinVar Miner

Submissions for variant NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) (rs138538072)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617449 SCV000734910 likely benign Cardiovascular phenotype 2018-02-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770415 SCV000901858 uncertain significance Cardiomyopathy 2016-02-04 criteria provided, single submitter clinical testing
Invitae RCV000230907 SCV000288589 likely benign Arrhythmogenic right ventricular cardiomyopathy, type 9 2017-09-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038163 SCV000061829 uncertain significance not specified 2012-07-17 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The Ala474Thr varia nt in PKP2 has been identified in 7/3738 African American chromosomes from a bro ad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.ed u/EVS/; dbSNP rs138538072). Computational analyses (biochemical amino acid prope rties, conservation, AlignGVGD, and PolyPhen2) suggest that the Ala474Thr varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. This data supports that the Ala474Thr variant may be b enign but is insufficient to rule out a role in disease. Additional studies are needed to fully assess its clinical significance.

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