ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) (rs727503255)

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
Invitae RCV000227735 SCV000284263 uncertain significance Hypertrophic cardiomyopathy 2016-04-13 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 824 of the MYH7 protein (p.Val824Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYH7-related disease. ClinVar contains an entry for this variant (Variation ID: 164330). A computational algorithm designed to assess the pathogenicity of variants in MYH7 with regard to hypertrophic cardiomyopathy predicted this sequence change to be deleterious. The algorithm has a sensitivity of 94% and a specificity of 89% (PMID: 21310275). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000227735 SCV000199190 likely pathogenic Hypertrophic cardiomyopathy 2015-02-10 no assertion criteria provided clinical testing proposed classification - variant undergoing re-assessment, contact laboratory

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.