ClinVar Miner

Submissions for variant NC_000014.8:g.(?_57268453)_(57272174_?)del

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001983025 SCV002243903 pathogenic Anophthalmia-microphthalmia syndrome 2023-10-13 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the OTX2 gene has been identified. Loss-of-function variants in OTX2 are known to be pathogenic (PMID: 15846561, 20486942, 22577225, 24167467). 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 autosomal dominant agnathia-otocephaly complex and microphthalmia, anophthalmia, coloboma spectrum (PMID: 24167467, 24498598). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.