ClinVar Miner

Submissions for variant NC_000010.11:g.(?_13116257)_(13116350_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001031906 SCV001195213 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2019-05-29 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the OPTN gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed to segregate with amyotrophic lateral sclerosis in a family (PMID: 20428114). Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). For these reasons, this variant has been classified as Pathogenic.

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