ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)

dbSNP: rs140599944
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001869132 SCV002214900 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu135*) 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 (rs140599944, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with autosomal recessive amyotrophic lateral sclerosis (PMID: 29650794). ClinVar contains an entry for this variant (Variation ID: 631627). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases, University of Belgrade, School of Medicine RCV000778274 SCV001805843 pathogenic Amyotrophic lateral sclerosis type 12 2021-03-01 no assertion criteria provided clinical testing

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