ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1552C>T (p.Gln518Ter)

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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 RCV002634016 SCV003520204 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln518*) in the OPTN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). This variant is present in population databases (rs780777015, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with OPTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 2198963). For these reasons, this variant has been classified as Pathogenic.

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