Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001303078 | SCV001492312 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2021-04-24 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with UBA1-related conditions. This variant is present in population databases (rs148642741, ExAC 0.01%). This sequence change replaces arginine with tryptophan at codon 384 of the UBA1 protein (p.Arg384Trp). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
Ce |
RCV003457992 | SCV004184890 | uncertain significance | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | UBA1: PM2 |
Ambry Genetics | RCV004036262 | SCV004975318 | uncertain significance | Inborn genetic diseases | 2024-01-29 | criteria provided, single submitter | clinical testing | The c.1150C>T (p.R384W) alteration is located in exon 11 (coding exon 10) of the UBA1 gene. This alteration results from a C to T substitution at nucleotide position 1150, causing the arginine (R) at amino acid position 384 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |