ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.76C>A (p.His26Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002710926 SCV003005942 uncertain significance Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-07-21 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with OPTN-related conditions. This variant is present in population databases (rs200710076, gnomAD 0.01%). This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 26 of the OPTN protein (p.His26Asn).
PreventionGenetics, part of Exact Sciences RCV004736195 SCV005351932 uncertain significance OPTN-related disorder 2024-04-01 no assertion criteria provided clinical testing The OPTN c.76C>A variant is predicted to result in the amino acid substitution p.His26Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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