Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000772660 | SCV000739241 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2017-06-22 | criteria provided, single submitter | clinical testing | The p.R1339S variant (also known as c.4015C>A), located in coding exon 29 of the MYH11 gene, results from a C to A substitution at nucleotide position 4015. The arginine at codon 1339 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Color Diagnostics, |
RCV000772660 | SCV000905919 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2020-07-22 | criteria provided, single submitter | clinical testing | This missense variant replaces arginine with serine at codon 1346 of the MYH11 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |