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

gnomAD frequency: 0.00145  dbSNP: rs587780956

Total submissions: 8

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.
Labcorp Genetics (formerly Invitae), Labcorp	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