ClinVar Miner

Submissions for variant NC_000010.10:g.(?_13158247)_(13158360_?)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 RCV001975177 SCV002240193 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2023-12-26 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the OPTN gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). A similar copy number variant has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 20428114). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic.

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