Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000809493 | SCV000949645 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2023-02-20 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 337 of the MYLK protein (p.Val337Leu). This variant is present in population databases (rs760242263, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 653685). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MYLK protein function. 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. |
| Ambry Genetics | RCV002440740 | SCV002747786 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2021-11-24 | criteria provided, single submitter | clinical testing | The p.V337L variant (also known as c.1009G>C), located in coding exon 7 of the MYLK gene, results from a G to C substitution at nucleotide position 1009. The valine at codon 337 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |