Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004823872 | SCV005455986 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2024-11-03 | criteria provided, single submitter | clinical testing | The p.R434L variant (also known as c.1301G>T), located in coding exon 11 of the MYH11 gene, results from a G to T substitution at nucleotide position 1301. The arginine at codon 434 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV005107564 | SCV005845409 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2024-08-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 441 of the MYH11 protein (p.Arg441Leu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYH11-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYH11 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |