ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)

gnomAD frequency: 0.05969  dbSNP: rs11258194
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177328 SCV000229175 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000177328 SCV000305653 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000269750 SCV000361402 benign Primary open angle glaucoma 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina RCV000324769 SCV000361403 benign Amyotrophic lateral sclerosis type 12 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001705584 SCV000604575 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Mendelics RCV000269750 SCV001137998 likely benign Primary open angle glaucoma 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001512340 SCV001719737 benign Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001705584 SCV001893088 benign not provided 2018-09-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16358725, 17361544, 31198474, 31182772, 17293779, 28430856, 26376340, 25681989, 15226658, 11834836, 19172505, 17122126, 23357852)
Fulgent Genetics, Fulgent Genetics RCV002490331 SCV002800205 benign Primary open angle glaucoma; Glaucoma, normal tension, susceptibility to; Amyotrophic lateral sclerosis type 12 2022-02-25 criteria provided, single submitter clinical testing
OMIM RCV000007516 SCV000027717 risk factor Glaucoma, normal tension, susceptibility to 2002-02-08 no assertion criteria provided literature only
OMIM RCV000007517 SCV000027718 pathogenic Glaucoma 1, open angle, E 2002-02-08 no assertion criteria provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000177328 SCV001808244 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001705584 SCV001922414 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000177328 SCV001929934 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000177328 SCV001965788 benign not specified no assertion criteria provided clinical testing

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