Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000689177 | SCV000816817 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2022-02-05 | 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: 568727). This variant has not been reported in the literature in individuals affected with MYLK-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 687 of the MYLK protein (p.Pro687Arg). |
| Ambry Genetics | RCV002422486 | SCV002725124 | uncertain significance | Familial thoracic aortic aneurysm and aortic dissection | 2022-10-02 | criteria provided, single submitter | clinical testing | The p.P687R variant (also known as c.2060C>G), located in coding exon 12 of the MYLK gene, results from a C to G substitution at nucleotide position 2060. The proline at codon 687 is replaced by arginine, an amino acid with dissimilar 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. |