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
Labcorp Genetics (formerly Invitae), Labcorp RCV001934531 SCV002135014 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2021-10-12 criteria provided, single submitter clinical testing 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 is present in population databases (rs781997101, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. 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. 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.

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