ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1051G>A (p.Glu351Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340786 SCV004047505 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 criteria provided, single submitter clinical testing The missense variant c.1051G>A (p.Glu351Lys) in TBK1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Glu351Lys variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Glu at position 351 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Glu351Lys in TBK1 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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