ClinVar Miner

Submissions for variant NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala)

gnomAD frequency: 0.00142  dbSNP: rs139851304
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Total submissions: 13
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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 RCV000038142 SCV000051591 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038142 SCV000061808 benign not specified 2015-03-18 criteria provided, single submitter clinical testing p.Thr338Ala in exon 3 of PKP2: This variant is not expected to have clinical sig nificance due its presence in the general population and a lack of evolutionary conservation (multiple mammals carry an alanine (Ala) at this position despite h igh nearby amino acid conservation). This variant has also been identified in 0. 3% (192/65422) of European chromosomes by the Exome Aggregation Consortium (ExAC , http://exac.broadinstitute.org; dbSNP rs139851304).
GeneDx RCV001719748 SCV000236181 benign not provided 2019-05-22 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 25196244, 20864495, 20031616, 26310507, 28255936)
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203083 SCV000257985 likely benign Arrhythmogenic right ventricular cardiomyopathy 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000230443 SCV000288586 benign Arrhythmogenic right ventricular dysplasia 9 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000230443 SCV000378464 likely benign Arrhythmogenic right ventricular dysplasia 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Ambry Genetics RCV000618818 SCV000736010 benign Cardiovascular phenotype 2017-03-22 criteria provided, single submitter clinical testing This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000770420 SCV000901863 benign Cardiomyopathy 2019-05-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000770420 SCV000902717 benign Cardiomyopathy 2018-03-13 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000038142 SCV001433420 benign not specified 2019-08-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001719748 SCV002545021 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing PKP2: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003924924 SCV004748861 benign PKP2-related disorder 2019-06-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Blueprint Genetics RCV000157409 SCV000207148 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-08-01 no assertion criteria provided clinical testing

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