ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1305T>A (p.Tyr435Ter)

dbSNP: rs2539520026
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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 RCV003019974 SCV003325904 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2022-06-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr435*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TBK1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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