ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn)

gnomAD frequency: 0.00148  dbSNP: rs151264959
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000172577 SCV000054789 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000154800 SCV000204480 likely benign not specified 2016-04-29 criteria provided, single submitter clinical testing p.Asp829Asn in exon 12 of PKP2: This variant is not expected to have clinical si gnificance because it has been identified in 0.5% (54/10406) of African chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs151264959).
GeneDx RCV000172577 SCV000236171 likely benign not provided 2020-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28359509, 23861362, 21636032)
Invitae RCV001082309 SCV000557335 benign Arrhythmogenic right ventricular dysplasia 9 2024-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771836 SCV000904549 likely benign Cardiomyopathy 2018-04-28 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256701 SCV001433104 likely benign Dilated cardiomyopathy 1A 2019-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002426747 SCV002740834 likely benign Cardiovascular phenotype 2018-04-20 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.
Clinical Genetics, Academic Medical Center RCV000154800 SCV001922222 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000172577 SCV001929435 likely benign not provided no assertion criteria provided clinical testing

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