ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) (rs730880761)

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
GeneDx RCV000158577 SCV000208512 likely pathogenic not provided 2018-12-18 criteria provided, single submitter clinical testing While the Glu935Val mutation in the MYH7 gene has not been reported to our knowledge, a mutation affecting this same codon, Glu935Lys, has been reported in association with HCM (Nishi H et al., 1994). Additionally, mutations in nearby residues (Glu931Lys, Met932Lys, Glu949Lys) have been reported in association with HCM, further supporting the functional importance of this codon and this region of the protein. Glu935Val results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a non-polar Valine at a position that is conserved across species. In silico analysis predicts Glu935Val is probably damaging to the protein structure/function. Furthermore, Glu935Val 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.In summary, Glu935Val in the MYH7 gene is interpreted as a likely disease-causing mutation.
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790957 SCV000930212 likely pathogenic MYH7-Related Disorders 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790958 SCV000930213 likely pathogenic Myopathy, distal, 1 2019-04-27 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000790959 SCV000930214 likely pathogenic Scapuloperoneal myopathy, MYH7-related 2019-04-27 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.