ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2037A>G (p.Thr679=)

dbSNP: rs377504106
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000219770 SCV000270734 likely benign not specified 2015-02-18 criteria provided, single submitter clinical testing p.Thr723Thr in exon 11 of PKP2: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 0.2% (21/8652) of Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV000527316 SCV000638885 benign Arrhythmogenic right ventricular dysplasia 9 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000527316 SCV001266712 uncertain significance Arrhythmogenic right ventricular dysplasia 9 2017-12-03 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 Diagnostics, LLC DBA Color Health RCV001186666 SCV001353205 benign Cardiomyopathy 2018-08-05 criteria provided, single submitter clinical testing
GeneDx RCV001689752 SCV001915126 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427000 SCV002731355 likely benign Cardiovascular phenotype 2021-04-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV003997708 SCV004845933 benign Arrhythmogenic right ventricular cardiomyopathy 2024-01-03 criteria provided, single submitter clinical testing

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