ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)

gnomAD frequency: 0.00003  dbSNP: rs202044898
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626292 SCV000746951 uncertain significance Amyotrophic lateral sclerosis 2017-12-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001362335 SCV001558346 uncertain significance Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 92 of the OPTN protein (p.Glu92Val). This variant is present in population databases (rs202044898, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with OPTN-related conditions. ClinVar contains an entry for this variant (Variation ID: 523078). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on OPTN protein function. 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.
Ambry Genetics RCV002438613 SCV002750315 uncertain significance Inborn genetic diseases 2024-01-16 criteria provided, single submitter clinical testing The c.275A>T (p.E92V) alteration is located in exon 3 (coding exon 2) of the OPTN gene. This alteration results from a A to T substitution at nucleotide position 275, causing the glutamic acid (E) at amino acid position 92 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004691946 SCV005190639 uncertain significance not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV004691946 SCV005410935 uncertain significance not provided 2023-08-24 criteria provided, single submitter clinical testing

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