Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000010434 | SCV003445226 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2022-09-28 | 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on UBA1 function (PMID: 25075304, 29034082). 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: 9780). This missense change has been observed in individual(s) with UBA1-related conditions (PMID: 18179898). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 539 of the UBA1 protein (p.Met539Ile). |
OMIM | RCV000010434 | SCV000030660 | pathogenic | Infantile-onset X-linked spinal muscular atrophy | 2008-01-01 | no assertion criteria provided | literature only | |
Gene |
RCV000010434 | SCV000041025 | not provided | Infantile-onset X-linked spinal muscular atrophy | no assertion provided | literature only |