ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)

dbSNP: rs1833438306
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001095475 SCV001251020 likely pathogenic Amyotrophic lateral sclerosis type 12 2020-03-31 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001267917 SCV001446427 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV001095475 SCV002764815 pathogenic Amyotrophic lateral sclerosis type 12 2020-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001267917 SCV002821495 pathogenic not provided 2022-11-01 criteria provided, single submitter clinical testing OPTN: PVS1, PM3:Strong, PP1:Strong, PM2
Human Genetics Bochum, Ruhr University Bochum RCV001095475 SCV004042803 pathogenic Amyotrophic lateral sclerosis type 12 2023-08-16 criteria provided, single submitter clinical testing ACMG criteria used to clasify this variant:PVS1, PS4_SUP, PM2_SUP, PP1
Labcorp Genetics (formerly Invitae), Labcorp RCV003769036 SCV004570126 pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-04-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys360Valfs*18) 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). This premature translational stop signal has been observed in individual(s) with autosomal recessive amyotrophic lateral sclerosis (PMID: 25681989). This variant is also known as deltaAA del at P.359*. ClinVar contains an entry for this variant (Variation ID: 873266). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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