ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.802A>G (p.Ser268Gly)

gnomAD frequency: 0.00002  dbSNP: rs746971642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822732 SCV000963548 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces serine with glycine at codon 268 of the TBK1 protein (p.Ser268Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. This variant is present in population databases (rs746971642, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with TBK1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Centogene AG - the Rare Disease Company RCV001809844 SCV002059635 uncertain significance Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 2019-01-24 criteria provided, single submitter clinical testing

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