ClinVar Miner

Submissions for variant NC_000010.10:g.(?_13151123)_(13178866_?)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 RCV001957517 SCV002206402 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-04-02 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 OPTN-related conditions. A gross deletion of the genomic region encompassing the full coding sequence of the OPTN gene has been identified. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). 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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