ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.669+4A>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics Laboratory, Washington University in St. Louis RCV005054980 SCV005688704 uncertain significance Spinocerebellar ataxia 48 2023-11-17 criteria provided, single submitter clinical testing The STUB1 c.669+4A>T variant, to our knowledge, has not been reported in the medical literature. The highest population minor allele frequency in the population database genome aggregation database (v.2.1.1) is 0.011% in the South Asian population. Computational predictors indicate that the variant may alter splicing, evidence that correlates with impact to STUB1 function. Due to limited information, and based on ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), the clinical significance of this variant is uncertain at this time.

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