ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)

dbSNP: rs1564354968
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698642 SCV000827322 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2017-06-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). This variant has not been reported in the literature in individuals with OPTN-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys55Alafs*9) in the OPTN gene. It is expected to result in an absent or disrupted protein product.

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