ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4265G>A (p.Arg1422Gln)

dbSNP: rs574433291
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000530234 SCV000648260 likely benign Hypertrophic cardiomyopathy 14 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV002269287 SCV002553176 uncertain significance not provided 2022-01-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Ambry Genetics RCV004024141 SCV003531923 uncertain significance Cardiovascular phenotype 2023-05-22 criteria provided, single submitter clinical testing The p.R1422Q variant (also known as c.4265G>A), located in coding exon 28 of the MYH6 gene, results from a G to A substitution at nucleotide position 4265. The arginine at codon 1422 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002269287 SCV005211365 likely benign not provided criteria provided, single submitter not provided

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.