ClinVar Miner

Submissions for variant NM_002471.3(MYH6):c.5077G>A (p.Val1693Met) (rs373457153)

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
GeneDx RCV000413418 SCV000492156 uncertain significance not specified 2016-11-22 criteria provided, single submitter clinical testing The V1693M variant of uncertain significance in the MYH6 gene has not been published as a pathogenic or benign variant to our knowledge. This variant was not observed with any significant frequency in either the Exome Aggregation Consortium or the NHLBI Exome Sequencing Project. Nevertheless, the V1693M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution also occurs at a position where amino acids with similar properties to Valine are tolerated across species, and M1693 is tolerated in at least three species. Furthermore, the majority of in silico tools predict this variant likely does not alter the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Fulgent Genetics,Fulgent Genetics RCV000765148 SCV000896377 uncertain significance Familial hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Familial hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2018-10-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770427 SCV000901870 uncertain significance Cardiomyopathy 2016-11-24 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.