ClinVar Miner

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

gnomAD frequency: 0.00212  dbSNP: rs369883442
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Total submissions: 8
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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.
Invitae 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).
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

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