ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.2869C>T (p.Arg957Cys)

gnomAD frequency: 0.00001  dbSNP: rs781997101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001934531 SCV002135014 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2021-10-12 criteria provided, single submitter clinical testing This variant is present in population databases (rs781997101, ExAC 0.002%). This sequence change replaces arginine with cysteine at codon 957 of the UBA1 protein (p.Arg957Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant has not been reported in the literature in individuals affected with UBA1-related conditions. 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 disruptive.

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