ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2341C>A (p.Leu781Met)

dbSNP: rs1348730180
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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000656550 SCV000778582 uncertain significance Hypertrophic cardiomyopathy 1 2018-03-12 criteria provided, single submitter research
Ambry Genetics RCV002442387 SCV002732398 uncertain significance Cardiovascular phenotype 2018-12-24 criteria provided, single submitter clinical testing The p.L781M variant (also known as c.2341C>A), located in coding exon 19 of the MYH7 gene, results from a C to A substitution at nucleotide position 2341. The leucine at codon 781 is replaced by methionine, an amino acid with highly similar properties. This alteration has been detected once in a cohort of individuals with hypertrophic cardiomyopathy (HCM) (Wang J et al. Eur. J. Heart Fail., 2014 Sep;16:950-7). In addition, authors performed structural analysis on this alteration and determined that it impairs MYH7 lever arm compliance (Robert-Paganin J et al. Nat Commun, 2018 10;9:4019). A different alteration located at the same position, p.L781P, has also been detected in individuals with hypertrophic cardiomyopathy (Alfares AA et al. Genet. Med., 2015 Nov;17:880-8; Walsh R et al. Genet. Med., 2017 02;19:192-203). 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.

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.