ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.1800C>G (p.Ser600Arg)

dbSNP: rs398124298
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001659726 SCV001880546 pathogenic not provided 2021-01-25 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant appears to segregate with disease in at least one family. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant reduced the protein's GTP hydrolysis activity (PMID: 20185555, 30293569).
Labcorp Genetics (formerly Invitae), Labcorp RCV001659726 SCV002236722 pathogenic not provided 2022-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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 OPA1 protein function. ClinVar contains an entry for this variant (Variation ID: 30461). This missense change has been observed in individual(s) with autosomal dominant OPA1-related conditions (PMID: 18065439, 18158317). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 545 of the OPA1 protein (p.Ser545Arg).
Centre for Inherited Metabolic Diseases, Karolinska University Hospital RCV002464072 SCV002605369 pathogenic Autosomal dominant optic atrophy classic form 2022-11-22 criteria provided, single submitter clinical testing
OMIM RCV000023415 SCV000044706 pathogenic Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 2010-03-01 no assertion criteria provided literature only
Wellcome Centre for Mitochondrial Research, Newcastle University RCV000508898 SCV000575922 pathogenic Mitochondrial disease 2017-04-07 no assertion criteria provided clinical testing

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