ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1107T>C (p.Ser369=)

gnomAD frequency: 0.00033  dbSNP: rs148311735
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428324 SCV000513306 benign not specified 2015-05-08 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 RCV000428324 SCV000711587 likely benign not specified 2017-05-18 criteria provided, single submitter clinical testing p.Ser369Ser in exon 2 of JPH2: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 0.1% (26/23960) of African chromosomes by the Genome Aggregation Database (gnomAD,; dbSNP rs148311735).
Ambry Genetics RCV000619302 SCV000736706 likely benign Cardiovascular phenotype 2016-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV001520678 SCV001729846 benign Hypertrophic cardiomyopathy 2023-04-16 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000428324 SCV001922539 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723982 SCV001958606 likely benign not provided no assertion criteria provided clinical testing

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