Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001892327 | SCV002148195 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2021-02-28 | criteria provided, single submitter | clinical testing | 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with UBA1-related conditions. This variant is present in population databases (rs374003677, ExAC 0.01%). This sequence change replaces asparagine with serine at codon 856 of the UBA1 protein (p.Asn856Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. |