ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3980C>T (p.Ala1327Val)

gnomAD frequency: 0.00070  dbSNP: rs148558068
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247624 SCV000320427 likely benign Cardiovascular phenotype 2023-05-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000865488 SCV001006465 likely benign Hypertrophic cardiomyopathy 14 2023-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001660390 SCV001471875 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing The MYH6 c.3980C>T; p.Ala1327Val variant (rs148558068) is reported in the literature in an individual affected with congenital heart disease that carried a second MYH6 missense variant in trans (Jin 2017). This variant is found in the African population with an overall allele frequency of 0.29% (39/13276 alleles) in the Genome Aggregation Database. The alanine at codon 1327 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Ala1327Val variant is uncertain at this time. References: Jin SC et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat Genet. 2017 Nov;49(11):1593-1601.
GeneDx RCV001660390 SCV001874823 uncertain significance not provided 2023-11-13 criteria provided, single submitter clinical testing Reported in an individual with an atrioventricular canal defect and a dilated, hypertrabeculated left ventricle who also harbors a second missense variant in the MYH6 gene (PMID: 28991257); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 35621855, 28991257)

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.