ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg)

gnomAD frequency: 0.00002  dbSNP: rs550631811
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000797881 SCV000937466 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2018-11-20 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with UBA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with arginine at codon 338 of the UBA1 protein (p.Gln338Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.

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