ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val)

gnomAD frequency: 0.00136  dbSNP: rs144199562
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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 RCV000341289 SCV000391150 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.
Invitae RCV000925780 SCV001071330 benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001289306 SCV001477036 benign not specified 2020-05-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002522352 SCV003674630 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.3331C>G (p.L1111V) alteration is located in exon 15 (coding exon 14) of the TTBK2 gene. This alteration results from a C to G substitution at nucleotide position 3331, causing the leucine (L) at amino acid position 1111 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003957636 SCV004772396 benign TTBK2-related condition 2019-07-16 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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