ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.642G>A (p.Ala214=)

gnomAD frequency: 0.00145  dbSNP: rs587780956
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000125444 SCV000168896 benign not specified 2014-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000200103 SCV000253552 benign Hypertrophic cardiomyopathy 2024-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000125444 SCV000270290 likely benign not specified 2015-06-12 criteria provided, single submitter clinical testing p.Ala214Ala in exon 2 of JPH2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/82 African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org) .
Ambry Genetics RCV000620394 SCV000735164 likely benign Cardiovascular phenotype 2015-11-05 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001727585 SCV003799449 benign not provided 2023-10-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000125444 SCV004038208 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000125444 SCV001919647 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727585 SCV001974580 likely benign not provided no assertion criteria provided clinical testing

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