ClinVar Miner

Submissions for variant NC_000016.10:g.(?_2496129)_(2500978_?)del

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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 RCV000537439 SCV000654192 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2019-09-30 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the TBC1D24 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Loss-of-function variants in TBC1D24 are known to be pathogenic. A genomic deletion including entire TBC1D24 gene plus additional genes has been reported in the literature in an individual with epilepsy and intellectual disability (PMID: 23184456). For these reasons, this variant has been classified as Pathogenic.

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