ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1359T>G (p.Asp453Glu)

dbSNP: rs1565821771
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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 RCV000688383 SCV000815992 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2018-04-27 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBK1-related disease. This sequence change replaces aspartic acid with glutamic acid at codon 453 of the TBK1 protein (p.Asp453Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. 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.

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