ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1241_1242del (p.Glu414fs)

dbSNP: rs774772178
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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 RCV001913429 SCV002187058 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-05-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu414Valfs*14) 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 (rs774772178, gnomAD 0.004%). 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: 1409027). For these reasons, this variant has been classified as Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005361814 SCV005920599 likely pathogenic Amyotrophic lateral sclerosis type 12 2023-09-25 criteria provided, single submitter research

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