ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.1059C>T (p.Ser353=)

gnomAD frequency: 0.00172  dbSNP: rs200405805
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000394223 SCV000391168 benign Spinocerebellar ataxia type 11 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000881840 SCV001025037 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001660652 SCV001880743 benign not specified 2020-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881840 SCV002063412 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TTBK2: BP4, BP7, BS1
PreventionGenetics, part of Exact Sciences RCV004755871 SCV005361604 likely benign TTBK2-related disorder 2024-08-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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