Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000621065 | SCV000739181 | uncertain significance | Cardiovascular phenotype | 2017-04-19 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
Fulgent Genetics, |
RCV000765254 | SCV000896504 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000765254 | SCV000959295 | uncertain significance | Aortic aneurysm, familial thoracic 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 1590 of the MYH11 protein (p.Arg1590Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs777170587, ExAC 0.009%). This variant has not been reported in the literature in individuals with MYH11-related disease. ClinVar contains an entry for this variant (Variation ID: 519925). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |