ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1234del (p.Ala412fs)

dbSNP: rs2539519111
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003026167 SCV003318236 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2022-02-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TBK1-related conditions. For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ala412Leufs*7) in the TBK1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBK1 are known to be pathogenic (PMID: 25803835, 26476236, 26581300).

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