Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000648739 | SCV000770560 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2021-03-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MYLK-related conditions. ClinVar contains an entry for this variant (Variation ID: 539090). This variant is present in population databases (rs202126043, ExAC 0.02%). This sequence change replaces serine with tryptophan at codon 243 of the MYLK protein (p.Ser243Trp). The serine residue is highly conserved and there is a large physicochemical difference between serine and tryptophan. 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. |