ClinVar Miner

Submissions for variant NM_002474.3(MYH11):c.5450C>T (p.Ala1817Val) (rs142654744)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000182530 SCV000234878 uncertain significance not provided 2019-01-21 criteria provided, single submitter clinical testing p.Ala1817Val (GCG>GTG): c.5450 C>T in exon 38 of the MYH11 gene (NM_002474.2)The A1817V was identified in one out of 101 colorecal cancer tumor samples as a variant of unknown significance (Alhopuro P et al., 2008). Additionally, the A1817V was not observed in 1,015 control chromosomes (Alhopuro P et al., 2008). The A1817V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. No missense mutations in nearby residues have been reported in association with TAAD-related disorders, indicating that this region of the protein may be tolerant to change. Nevertheless, the A1817V variant was not observed with any significant frequency 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. 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).
Ambry Genetics RCV000622031 SCV000739207 uncertain significance Cardiovascular phenotype 2016-05-24 criteria provided, single submitter clinical testing Insufficient evidence
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680551 SCV000807962 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Color RCV000778044 SCV000914158 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-03 criteria provided, single submitter clinical testing
Invitae RCV000182530 SCV001008075 likely benign not provided 2018-11-27 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.