ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1481G>T (p.Gly494Val)

dbSNP: rs387906900
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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 RCV001857360 SCV002231700 pathogenic not provided 2021-09-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Experimental studies have shown that this missense change affects OPA1 function (PMID: 20185555). 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) performed at Invitae indicates that this missense variant is expected to disrupt OPA1 protein function. ClinVar contains an entry for this variant (Variation ID: 30462). This variant is also known as c.1481G>T (p.Gly494Val). This missense change has been observed in individual(s) with dominant optical atrophy (PMID: 18204809, 33884488). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with valine at codon 439 of the OPA1 protein (p.Gly439Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine.
OMIM RCV000023416 SCV000044707 pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2008-02-01 no assertion criteria provided literature only

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