Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001351762 | SCV001546257 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2022-07-26 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs781969406, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. 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. ClinVar contains an entry for this variant (Variation ID: 1047097). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 146 of the UBA1 protein (p.Ala146Thr). |