Submissions for variant NM_020433.5(JPH2):c.1971G>A (p.Glu657=)

gnomAD frequency: 0.00099  dbSNP: rs142333841

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000125450	SCV000168902	benign	not specified	2014-04-20	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000125450	SCV000270288	likely benign	not specified	2015-08-21	criteria provided, single submitter	clinical testing	p.Glu657Glu in exon 4 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 0.4% (58/ 16416) of South Asian chromosomes and 0.1% (72/65440) of European chromosomes by the Exom e Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs142333841).
Invitae	RCV000234601	SCV000290473	likely benign	Hypertrophic cardiomyopathy	2024-01-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621962	SCV000735551	likely benign	Cardiovascular phenotype	2016-10-07	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000606142	SCV000743097	benign	Hypertrophic cardiomyopathy 17	2017-07-28	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000606142	SCV000744103	likely benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003656628	SCV001474639	benign	not provided	2023-09-12	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000606142	SCV000734065	likely benign	Hypertrophic cardiomyopathy 17		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000125450	SCV001920140	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000125450	SCV001951020	benign	not specified		no assertion criteria provided	clinical testing