ClinVar Miner

Submissions for variant NC_000015.9:g.(?_40453422)_(40457417_?)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 RCV003105671 SCV003793383 pathogenic Mosaic variegated aneuploidy syndrome 1 2023-01-15 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BUB1B-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the BUB1B gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BUB1B are known to be pathogenic (PMID: 15475955, 21190457).

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