ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.172del (p.Arg57_Leu58insTer)

dbSNP: rs1555501140
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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 RCV000651566 SCV000773420 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2017-09-24 criteria provided, single submitter clinical testing Loss-of-function variants in TBC1D24 are known to be pathogenic (PMID: 23526554, 24291220). This variant has not been reported in the literature in individuals with TBC1D24-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu58*) in the TBC1D24 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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