ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1443A>T (p.Val481=)

gnomAD frequency: 0.00001  dbSNP: rs1396706988
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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 RCV001912995 SCV002174667 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2022-09-07 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 1401632). This variant has not been reported in the literature in individuals affected with TBK1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects codon 481 of the TBK1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TBK1 protein. It affects a nucleotide within the consensus splice site.

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