ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.131G>A (p.Trp44Ter)

dbSNP: rs1567411053
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728495 SCV000856075 pathogenic not provided 2017-08-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862149 SCV002165017 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp44*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TBC1D24-related conditions. ClinVar contains an entry for this variant (Variation ID: 593459). For these reasons, this variant has been classified as Pathogenic.

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