ClinVar Miner

Submissions for variant NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) (rs587782951)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000143902 SCV000188773 likely pathogenic Primary familial hypertrophic cardiomyopathy 2015-06-04 criteria provided, single submitter clinical testing
Invitae RCV000466489 SCV000541244 uncertain significance Hypertrophic cardiomyopathy 2016-09-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with lysine at codon 161 of the JPH2 protein (p.Thr161Lys). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and lysine. While this variant is not present in population databases (rs587782951), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a JPH2-related disease. ClinVar contains an entry for this variant (Variation ID: 155800). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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.