ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)

dbSNP: rs748007618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000684999 SCV000812467 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-11-25 criteria provided, single submitter clinical testing This variant, c.236_238del, results in the deletion of 1 amino acid(s) of the TBK1 protein (p.Thr79del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs748007618, gnomAD 0.001%). This variant has been observed in individual(s) with clinical features of TBK1-related conditions (PMID: 28889094, 29146049, 30033073). Studies have shown that this variant alters TBK1 gene expression (PMID: 28008748). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000684999 SCV004244435 likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-02-15 criteria provided, single submitter clinical testing

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