ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.*240T>C (rs1555475794)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Uludag Hospital, Genetic Diseases Diagnostic Center,University of Uludag RCV000625522 SCV000680479 likely pathogenic Spinocerebellar ataxia, autosomal recessive 16 2018-02-08 criteria provided, single submitter research Drastically low levels of STUB1 protein in patients. Not present in any database. Absent from controls and located in a highly conserved region of the gene. Cosegregation with disease in multiple affected family members (3 affected patients) in the STUB1 gene definitively known to cause SCAR16.

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