Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000000895 | SCV001142701 | pathogenic | Spinocerebellar ataxia type 11 | 2019-06-06 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001818115 | SCV002064515 | pathogenic | not provided | 2018-04-23 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
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 | |
Gene |
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 |