ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter) (rs140599944)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000778274 SCV000914448 uncertain significance Amyotrophic lateral sclerosis type 12 2018-12-18 criteria provided, single submitter clinical testing The OPTN c.403G>T (p.Glu135Ter) variant is a stop-gained variant predicted to result in premature termination of the protein product. The p.Glu135Ter variant has been reported in one study in which it is found in a homozygous state in one patient with amyotrophic lateral sclerosis (Müller et al. 2018). Control data are unavailable for this variant, which is reported at a frequency of 0.000081 in the European (non-Finnish) population of the Genome Aggregation Database. Based on the potential impact of stop-gained variants and the limited evidence from the literature, the p.Glu135Ter variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive amyotrophic lateral sclerosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000994352 SCV001147825 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001105536 SCV001262507 benign Primary open angle glaucoma 2017-04-28 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.

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