ClinVar Miner

Submissions for variant NM_000256.3(MYBPC3):c.1386C>A (p.Asp462Glu)

dbSNP: rs1213818614
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688287 SCV000815892 uncertain significance Hypertrophic cardiomyopathy 2018-02-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYBPC3-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with glutamic acid at codon 462 of the MYBPC3 protein (p.Asp462Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid.
AiLife Diagnostics, AiLife Diagnostics RCV002223907 SCV002502511 uncertain significance not provided 2021-10-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493161 SCV002792241 uncertain significance Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 2021-10-18 criteria provided, single submitter clinical testing

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.