ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5364_5366del (p.Gln1788_Thr1789delinsHis) (rs876661179)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000219460 SCV000279722 likely pathogenic not provided 2016-01-13 criteria provided, single submitter clinical testing The c.5364_5366delGACins30 variant in the MYH7 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.5364_5366delGACins30 variant results in the replacement of 2 normal amnio acids with 11 incorrect amnio acids, denoted p.Gln1788_Thr1789delins11. The c.5364_5366delGACins30 variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This substitution occurs at a position that is conserved across species. Missense variants in nearby residues (D1792G, L1793P, Q1794E) have been reported in the Human Gene Mutation Database in association with MYH7-related disorder (Stenson et al., 2014), supporting the functional importance of this region of the protein. The c.5364_5366delGACins30 variant is a strong candidate for a pathogenic variant

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.