ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.3722A>C (p.Lys1241Thr)

gnomAD frequency: 0.00011  dbSNP: rs36104367
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488259 SCV000575004 uncertain significance not provided 2016-09-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765208 SCV000896444 uncertain significance Spinocerebellar ataxia type 11 2018-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000488259 SCV001477039 likely benign not provided 2020-01-02 criteria provided, single submitter clinical testing
Invitae RCV000488259 SCV003274982 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs36104367, gnomAD 0.02%). ClinVar contains an entry for this variant (Variation ID: 425066). This variant has not been reported in the literature in individuals affected with TTBK2-related conditions. This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 1241 of the TTBK2 protein (p.Lys1241Thr). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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