Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001985809 | SCV002261251 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2021-09-14 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine with threonine at codon 228 of the UBA1 protein (p.Asn228Thr). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and threonine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is not present in population databases (ExAC no frequency). |