Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806516 | SCV000946520 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2023-01-15 | 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: 651204). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is present in population databases (rs782354395, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 373 of the UBA1 protein (p.Val373Met). |
Ce |
RCV000999410 | SCV001156014 | uncertain significance | not provided | 2016-06-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000806516 | SCV003827979 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2021-06-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003258981 | SCV003981405 | uncertain significance | Inborn genetic diseases | 2023-05-16 | criteria provided, single submitter | clinical testing | The c.1117G>A (p.V373M) alteration is located in exon 11 (coding exon 10) of the UBA1 gene. This alteration results from a G to A substitution at nucleotide position 1117, causing the valine (V) at amino acid position 373 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |