ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1595T>C (p.Leu532Pro)

dbSNP: rs1192216525
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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 RCV001928455 SCV002178798 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2021-10-12 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TBK1 protein function. This variant has not been reported in the literature in individuals affected with TBK1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 532 of the TBK1 protein (p.Leu532Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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