ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.637C>T (p.Arg213Trp)

gnomAD frequency: 0.00145  dbSNP: rs767328866
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001721140 SCV000235928 likely benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Invitae RCV000200580 SCV000255038 benign Hypertrophic cardiomyopathy 2024-01-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000183468 SCV000271858 uncertain significance not specified 2015-06-12 criteria provided, single submitter clinical testing The p.Arg213Trp variant in JPH2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.1% (4/3380) of South Asian chr omosomes and 1/82 African chromosomes by the Exome Aggregation Consortium (ExAC, Computational prediction tools and conservatio n analysis do not provide strong support for or against an impact to the protein . In summary, the clinical significance of the p.Arg213Trp variant is uncertain.
Ambry Genetics RCV000618873 SCV000735160 likely benign Cardiovascular phenotype 2019-11-21 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001721140 SCV003800469 likely benign not provided 2023-10-10 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224202 SCV003920079 uncertain significance Hypertrophic cardiomyopathy 17; Cardiomyopathy, dilated, 2E 2021-03-30 criteria provided, single submitter clinical testing JPH2 NM_020433.4 exon 2 p.Arg213Trp (c.637C>T): This variant has not been reported in the literature but is present in 0.07% (64/81352) of total alleles in the Genome Aggregation Database, including 2 homozygotes ( This variant is present in ClinVar (Variation ID:201797). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Clinical Genetics, Academic Medical Center RCV000183468 SCV001921975 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001721140 SCV001967620 likely benign not provided no assertion criteria provided clinical testing

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