ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2355T>C (p.Asp785=)

gnomAD frequency: 0.00034  dbSNP: rs142362933
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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, Mass General Brigham Personalized Medicine RCV000038210 SCV000061878 likely benign not specified 2012-05-22 criteria provided, single submitter clinical testing Asp829Asp in exon 12 of PKP2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2/7020 European Amer ican chromosomes and 2/3738 African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs142362933). Asp829Asp in exon 12 of PKP2 (rs142362933; allele frequency = 2/3 738) **
Labcorp Genetics (formerly Invitae), Labcorp RCV000462231 SCV000557313 likely benign Arrhythmogenic right ventricular dysplasia 9 2024-01-22 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000777804 SCV000913799 likely benign Cardiomyopathy 2018-10-18 criteria provided, single submitter clinical testing
GeneDx RCV001650871 SCV001863241 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426566 SCV002741769 likely benign Cardiovascular phenotype 2019-05-02 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.
Breakthrough Genomics, Breakthrough Genomics RCV001650871 SCV005216607 likely benign not provided criteria provided, single submitter not provided

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