ClinVar Miner

Submissions for variant NC_000011.9:g.(?_67250360)_(67254666_?)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 RCV001949258 SCV002240851 pathogenic not provided 2021-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A similar copy number variant has been observed in individual(s) with macroadenomas and/or pituitary adenoma (PMID: 18628514, 25093619). This variant is a gross deletion of the genomic region encompassing exon(s) 1-2 of the AIP 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 AIP are known to be pathogenic (PMID: 23321498, 26186299).

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