ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)

dbSNP: rs80356538
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000000895 SCV001142701 pathogenic Spinocerebellar ataxia type 11 2019-06-06 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818115 SCV002064515 pathogenic not provided 2018-04-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000000895 SCV004029939 pathogenic Spinocerebellar ataxia type 11 2023-07-25 criteria provided, single submitter clinical testing Variant summary: TTBK2 c.1329dupA (p.Arg444ThrfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 249276 control chromosomes (gnomAD). c.1329dupA has been reported in the literature in multiple individuals affected with Spinocerebellar Ataxia (example: Houlden_2007). These data indicate that the variant is very likely to be associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 18037885). Three submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. All submitters classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000000895 SCV000021045 pathogenic Spinocerebellar ataxia type 11 2007-12-01 no assertion criteria provided literature only
GeneReviews RCV000000895 SCV000041676 not provided Spinocerebellar ataxia type 11 no assertion provided literature only
Codex Genetics Limited RCV000000895 SCV000996006 pathogenic Spinocerebellar ataxia type 11 2019-02-28 no assertion criteria provided provider interpretation

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