ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5755C>T (p.Arg1919Cys)

gnomAD frequency: 0.00001  dbSNP: rs750085824
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 RCV000182565 SCV000234915 uncertain significance not provided 2014-09-23 criteria provided, single submitter clinical testing p.Arg1919Cys (CGC>TGC): c.5755 C>T in exon 40 of the MYH11 gene (NM_002474.2). A variant of unknown significance has been identified in the MYH11 gene. The R1919C variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The R1919C 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. The R1919C variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. However, missense mutations in nearby residues have not been reported, indicating this region of the protein may be tolerant of change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in TAAD panel(s).

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.