ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile)

gnomAD frequency: 0.00013  dbSNP: rs764753481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993244 SCV001146073 likely benign not provided 2019-01-10 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118473 SCV001276753 benign Spinocerebellar ataxia type 11 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000993244 SCV003796756 uncertain significance not provided 2025-01-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 367 of the TTBK2 protein (p.Lys367Ile). This variant is present in population databases (rs764753481, gnomAD 0.06%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with TTBK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 805613). 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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