Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557966 | SCV000639854 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2020-01-27 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a UBA1-related disease. This sequence change replaces tyrosine with cysteine at codon 618 of the UBA1 protein (p.Tyr618Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. |