ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.1189+10G>A

gnomAD frequency: 0.00061  dbSNP: rs185457813
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000876874 SCV001019506 benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2024-12-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479235 SCV004223124 likely benign not specified 2023-11-22 criteria provided, single submitter clinical testing Variant summary: TBK1 c.1189+10G>A alters a non-conserved nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00072 in 232756 control chromosomes. To our knowledge, no occurrence of c.1189+10G>A in individuals affected with Frontotemporal Dementia And/or Amyotrophic Lateral Sclerosis 4 and no experimental evidence demonstrating its impact on protein function have been reported. One submitter has cited clinical-significance assessments for this variant to ClinVar after 2014 and has classified the variant as benign. Based on the evidence outlined above, the variant was classified as likely benign.
PreventionGenetics, part of Exact Sciences RCV004746121 SCV005353966 benign TBK1-related disorder 2024-07-05 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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