Submissions for variant NM_020433.5(JPH2):c.780C>T (p.Ala260=)

gnomAD frequency: 0.00034  dbSNP: rs199840543

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214594	SCV000269187	benign	not specified	2015-06-25	criteria provided, single submitter	clinical testing	p.Ala260Ala in exon 2 of JPH2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 3.5% (73/2104) of Eas t Asian chromosomes, including 3 homozygotes, by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs199840543).
Ambry Genetics	RCV000247450	SCV000319033	benign	Cardiovascular phenotype	2016-08-11	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	RCV000214594	SCV000513305	benign	not specified	2015-07-16	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	RCV000457483	SCV000554193	benign	Hypertrophic cardiomyopathy	2025-01-06	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000214594	SCV006068417	benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529720	SCV001743661	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000214594	SCV001928014	benign	not specified		no assertion criteria provided	clinical testing