Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000488259 | SCV000575004 | uncertain significance | not provided | 2016-09-30 | criteria provided, single submitter | clinical testing | |
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. |