ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1349_1352del (p.Ile450fs)

dbSNP: rs876657404
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000185595 SCV000774856 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-02-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile450Lysfs*15) 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 present in population databases (no rsID available, gnomAD 0.001%). This premature translational stop signal has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 25803835). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 203435). For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV000185595 SCV002580634 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2022-02-02 criteria provided, single submitter clinical testing
OMIM RCV000185595 SCV000238504 pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2015-05-01 no assertion criteria provided literature only

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