Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000690206 | SCV000817885 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2022-01-04 | criteria provided, single submitter | clinical testing | 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. 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. ClinVar contains an entry for this variant (Variation ID: 569549). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 867 of the MYLK protein (p.Glu867Lys). |
Ambry Genetics | RCV002424614 | SCV002744045 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2019-09-10 | criteria provided, single submitter | clinical testing | The p.E867K variant (also known as c.2599G>A), located in coding exon 15 of the MYLK gene, results from a G to A substitution at nucleotide position 2599. The glutamic acid at codon 867 is replaced by lysine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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. |