Submissions for variant NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr)

gnomAD frequency: 0.19815  dbSNP: rs3810510

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172752	SCV000051543	benign	not specified	2013-06-24	criteria provided, single submitter	research
GeneDx	RCV000172752	SCV000168898	benign	not specified	2013-12-10	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	RCV000172752	SCV000269178	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Ala396Thr in exon 3 of JPH2: This variant is not expected to have clinical signi ficance because it has been identified in 33.0% (1455/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs3810510).
Ambry Genetics	RCV000250755	SCV000317525	benign	Cardiovascular phenotype	2015-06-15	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.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000623095	SCV000740570	benign	Long QT syndrome	2016-06-06	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625200	SCV000744109	benign	Hypertrophic cardiomyopathy 17	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000860234	SCV001000214	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001730568	SCV001980841	benign	Cardiomyopathy, dilated, 2E	2021-08-19	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625200	SCV001980842	benign	Hypertrophic cardiomyopathy 17	2021-08-19	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004717026	SCV005311811	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000172752	SCV001925989	benign	not specified		no assertion criteria provided	clinical testing