ClinVar Miner

Submissions for variant NM_013254.4(TBK1):c.813-7A>C

dbSNP: rs376075252
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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 RCV002091831 SCV002436057 likely benign Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2022-03-11 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV002091831 SCV002495981 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 2020-11-25 criteria provided, single submitter clinical testing TBK1 NM_013254.3 Intron 7 c.813-7A>C: This variant has not been reported in the literature but is present in 0.006% (1/15428) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-64875615-A-C?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224616 SCV003920529 uncertain significance Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 2021-03-30 criteria provided, single submitter clinical testing TBK1 NM_013254.3 Intron 7 c.813-7A>C: This variant has not been reported in the literature but is present in 0.006% (1/15428) of European alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/12-64875615-A-C?dataset=gnomad_r2_1). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is an intronic variant with no predicted change in the amino acid sequence but may have an unknown effect on splicing. Further studies are needed to understand its impact. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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