ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1195G>T (p.Glu399Ter)

dbSNP: rs1657737496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002601689 SCV002949886 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-03-18 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with autosomal recessive amyotrophic lateral sclerosis (PMID: 31759189). It has also been observed to segregate with disease in related individuals. This variant has been reported in individual(s) with autosomal dominant amyotrophic lateral sclerosis (Invitae); however, the role of the variant in this condition is currently unclear. This sequence change creates a premature translational stop signal (p.Glu399*) 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 not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003130726 SCV003810688 likely pathogenic not provided 2021-12-31 criteria provided, single submitter clinical testing
GeneDx RCV003130726 SCV005080615 pathogenic not provided 2023-08-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31759189)

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