ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys)

gnomAD frequency: 0.00003  dbSNP: rs727503236
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000151217 SCV000199061 uncertain significance not specified 2014-02-17 criteria provided, single submitter clinical testing The Glu1170Lys variant in MYH6 has not been previously reported in individuals w ith cardiomyopathy and data from large population studies is insufficient to det ermine its frequency. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen-2, and SIFT) suggest this variant may impact the protein, though this information is not predictive enough to determine patho genicity. Additional information is needed to fully assess the clinical signific ance of this variant.
Ambry Genetics RCV000617980 SCV000740253 likely benign Cardiovascular phenotype 2022-05-25 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 RCV000860938 SCV001001124 benign Hypertrophic cardiomyopathy 14 2023-11-13 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171186 SCV001333878 benign Cardiomyopathy 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV001561277 SCV001783841 uncertain significance not provided 2022-06-15 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001561277 SCV004236697 uncertain significance not provided 2023-02-07 criteria provided, single submitter clinical testing
Division of Human Genetics, Children's Hospital of Philadelphia RCV000477774 SCV000536800 uncertain significance Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to 2016-01-24 no assertion criteria provided research

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.