ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu) (rs142812715)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic and Experimental Medicine,University of Edinburgh RCV000492386 SCV000323225 pathogenic Motor neuron disease 2016-08-31 criteria provided, single submitter case-control
Invitae RCV000557693 SCV000632382 uncertain significance Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e 2017-09-17 criteria provided, single submitter clinical testing This sequence change replaces glutamine with leucine at codon 314 of the OPTN protein (p.Gln314Leu). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and leucine. This variant is present in population databases (rs142812715, ExAC 0.02%). This variant has been reported in 2 individuals affected with amyotrophic lateral sclerosis (PMID: 21613650, 28089114). It has also been reported in a healthy control individual (PMID: 28089114). ClinVar contains an entry for this variant (Variation ID: 266060). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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