Submissions for variant NM_020433.5(JPH2):c.1794C>A (p.Ser598=)

gnomAD frequency: 0.00212  dbSNP: rs369883442

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000247550	SCV000319863	benign	Cardiovascular phenotype	2015-06-25	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.
GeneDx	RCV000435070	SCV000513307	benign	not specified	2015-04-21	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	RCV000472171	SCV000554192	benign	Hypertrophic cardiomyopathy	2024-01-24	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000435070	SCV000711585	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ser598Ser in exon 4 of JPH2: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 0.5% (18/3776) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Breakthrough Genomics, Breakthrough Genomics	RCV001699419	SCV005311805	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000610898	SCV000734066	likely benign	Hypertrophic cardiomyopathy 17		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000435070	SCV001920599	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001699419	SCV001926925	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699419	SCV001953391	likely benign	not provided		no assertion criteria provided	clinical testing