Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535750 | SCV000650522 | uncertain significance | Aortic aneurysm, familial thoracic 7 | 2017-06-16 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with a MYLK-related disease. This variant is present in population databases (rs774187263, ExAC 0.001%). This sequence change replaces tryptophan with arginine at codon 754 of the MYLK protein (p.Trp754Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, this variant has uncertain impact on MYLK function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |