ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.421T>C (p.Tyr141His)

gnomAD frequency: 0.00001  dbSNP: rs387906897
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256951 SCV001433482 uncertain significance Hypertrophic cardiomyopathy 1 2020-02-29 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV001781303 SCV002502096 likely pathogenic not provided 2021-07-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002326683 SCV002629031 uncertain significance Cardiovascular phenotype 2020-08-26 criteria provided, single submitter clinical testing The p.Y141H variant (also known as c.421T>C), located in coding exon 2 of the JPH2 gene, results from a T to C substitution at nucleotide position 421. This variant was reported in one sporadic hypertrophic cardiomyopathy (HCM) case, and functional studies indicate that this alteration may impact protein function (Landstrom AP et al. J. Mol. Cell. Cardiol., 2007 Jun;42:1026-35; Woo JS et al. J. Biol. Chem., 2012 Apr;287:14336-48). The tyrosine at codon 141 is replaced by histidine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
OMIM RCV000023409 SCV000044700 pathogenic Hypertrophic cardiomyopathy 17 2007-06-01 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.