ClinVar Miner

Submissions for variant NC_000002.11:g.(?_148730288)_(149270510_?)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 RCV001951522 SCV002244570 pathogenic Intellectual disability, autosomal dominant 1 2022-08-23 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the MBD5 gene has been identified. Loss-of-function variants in MBD5 are known to be pathogenic (PMID: 23422940, 23587880). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. Isolated whole-gene deletions of MBD5 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 19809484, 19904302, 24885232). For these reasons, this variant has been classified as Pathogenic.

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