ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2546150)_(2550959_?)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 RCV001896986 SCV002170283 pathogenic Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-07-17 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. Loss-of-function variants in TBC1D24 are known to be pathogenic (PMID: 23526554, 24291220). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. A similar copy number variant has been observed in individual(s) with epilepsy and intellectual disability (PMID: 23184456). For these reasons, this variant has been classified as Pathogenic.

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