ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1385_1388del (p.Thr462fs)

dbSNP: rs1476919390
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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 RCV003589495 SCV004316543 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-03-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr462Lysfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with amyotrophic lateral sclerosis and dementia (PMID: 28008748). For these reasons, this variant has been classified as Pathogenic.

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