ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1740del (p.Glu580fs)

dbSNP: rs2136087722
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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 RCV001386793 SCV001587141 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2020-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TBK1 are known to be pathogenic (PMID: 25803835, 26476236, 26581300). This variant has not been reported in the literature in individuals with TBK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu580Aspfs*19) in the TBK1 gene. It is expected to result in an absent or disrupted protein product.

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