ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter)

dbSNP: rs763626059
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760799 SCV000890694 pathogenic not provided 2018-10-08 criteria provided, single submitter clinical testing The E148X variant in the TBC1D24 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E148X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E148X as a pathogenic variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533848 SCV003330426 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620424). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. This variant is present in population databases (rs763626059, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu148*) in the TBC1D24 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TBC1D24 are known to be pathogenic (PMID: 23526554, 24291220).

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