ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1233+9G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003622375 SCV004553677 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2022-11-09 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the UBA1 gene. It does not directly change the encoded amino acid sequence of the UBA1 protein. 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with UBA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database.

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