ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.992C>T (p.Thr331Ile)

gnomAD frequency: 0.00003  dbSNP: rs200758840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000560570 SCV000656249 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-06-18 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 331 of the TBK1 protein (p.Thr331Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been reported in the amyotrophic lateral sclerosis variant database (PMID: 25700176, www.alsdb.org). ClinVar contains an entry for this variant (Variation ID: 475942). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
GeneDx RCV001775873 SCV002013988 uncertain significance not provided 2019-09-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25700176)

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