ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met) (rs754115924)

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
Ambry Genetics RCV000621181 SCV000740103 uncertain significance Cardiovascular phenotype 2016-12-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000817663 SCV000958240 uncertain significance Hypertrophic cardiomyopathy 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 1057 of the MYBPC3 protein (p.Thr1057Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs754115924, ExAC 0.002%). This variant has been observed in an individual affected with hypertrophic cardiomyopathy (PMID: 20800588). ClinVar contains an entry for this variant (Variation ID: 520333). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. 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.