ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.3177A>G (p.Ter1059Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003622438 SCV004396695 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2023-05-31 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. This variant has not been reported in the literature in individuals affected with UBA1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change disrupts the translational stop signal of the UBA1 mRNA. It is expected to extend the length of the UBA1 protein by 6 additional amino acid residues.

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