ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.358+5G>A

dbSNP: rs2136061124
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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 RCV001360981 SCV001556938 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2020-07-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 28822984). This variant has been observed in individual(s) with clinical features of amyotrophic lateral sclerosis (PMID: 28822984). This sequence change falls in intron 4 of the TBK1 gene. It does not directly change the encoded amino acid sequence of the TBK1 protein, but it affects a nucleotide within the consensus splice site of the intron.

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