ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)

dbSNP: rs2141872119
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001384532 SCV001584044 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp215Glufs*18) 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: 1071941). For these reasons, this variant has been classified as Pathogenic.
New York Genome Center RCV002265993 SCV002548573 pathogenic Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Developmental and epileptic encephalopathy, 16 2021-07-30 criteria provided, single submitter clinical testing

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