Submissions for variant NM_020433.5(JPH2):c.661T>C (p.Phe221Leu)

gnomAD frequency: 0.00630  dbSNP: rs558770240

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV002243872	SCV000235929	benign	not provided	2022-05-10	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Invitae	RCV000206653	SCV000260978	benign	Hypertrophic cardiomyopathy	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000183469	SCV000269186	benign	not specified	2015-10-22	criteria provided, single submitter	clinical testing	p.Phe221Leu in exon 2 of JPH2: This variant is not expected to have clinical sig nificance due to high population frequency. It has been identified in 4.82% (8/ 166) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; rs558770240).
Ambry Genetics	RCV000247052	SCV000320407	benign	Cardiovascular phenotype	2017-03-06	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.
Eurofins Ntd Llc (ga)	RCV000183469	SCV000333072	benign	not specified	2017-04-12	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000515223	SCV000611476	uncertain significance	Hypertrophic cardiomyopathy 17	2017-05-23	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000183469	SCV001433480	likely benign	not specified	2019-03-19	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000183469	SCV003928498	likely benign	not specified	2023-04-26	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002243872	SCV004701835	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	JPH2: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003907640	SCV004723159	benign	JPH2-related condition	2019-09-13	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).