Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001753380 | SCV002004986 | uncertain significance | not provided | 2019-08-30 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002482286 | SCV002789956 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy; VEXAS syndrome | 2022-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003621608 | SCV004467313 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2023-01-13 | 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1318833). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is present in population databases (rs781996319, gnomAD 0.008%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 268 of the UBA1 protein (p.Lys268Asn). |