ClinVar Miner

Submissions for variant NC_000003.12:g.(?_181712341)_(181874887_?)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 RCV000558193 SCV000644172 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2019-09-15 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the SOX2 gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Similar variants have been observed in individuals affected with microphthalmia, anophthalmia, and/or other ocular abnormalities (PMID: 17522144, 23701296, 24804704). Loss-of-function variants in SOX2 are known to be pathogenic (PMID: 12612584, 19921648, 24033328). For these reasons, this variant has been classified as Pathogenic.

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