Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001901072 | SCV002162084 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2023-05-05 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1395038). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 124 of the UBA1 protein (p.Gly124Ser). |
| Ambry Genetics | RCV002554210 | SCV003602986 | uncertain significance | Inborn genetic diseases | 2022-01-31 | criteria provided, single submitter | clinical testing | The c.370G>A (p.G124S) alteration is located in exon 5 (coding exon 4) of the UBA1 gene. This alteration results from a G to A substitution at nucleotide position 370, causing the glycine (G) at amino acid position 124 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |