ClinVar Miner

Submissions for variant NC_000004.11:g.(?_111539281)_(111554154_?)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 RCV001951059 SCV002243115 pathogenic Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Isolated whole-gene deletions of PITX2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 20881294, 22569110, 29100920). A gross deletion of the genomic region encompassing the full coding sequence of the PITX2 gene has been identified. Loss-of-function variants in PITX2 are known to be pathogenic (PMID: 19513095, 20881294). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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