ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.3170T>G (p.Ile1057Ser)

gnomAD frequency: 0.00002  dbSNP: rs1164940967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001346477 SCV001540685 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2018-04-06 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with serine at codon 1057 of the UBA1 protein (p.Ile1057Ser). The isoleucine residue is moderately conserved and there is a large physicochemical difference between isoleucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with UBA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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