ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.715del (p.Val239fs)

dbSNP: rs2141872348
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384860 SCV001584510 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2020-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val239Cysfs*16) in the TBC1D24 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TBC1D24-related conditions. Loss-of-function variants in TBC1D24 are known to be pathogenic (PMID: 23526554, 24291220). For these reasons, this variant has been classified as Pathogenic.

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