ClinVar Miner

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

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Total submissions: 1
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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.

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