ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)

gnomAD frequency: 0.00001  dbSNP: rs371943668
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001987873 SCV002222796 uncertain significance not provided 2023-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 101 of the OPA1 protein (p.Arg101Cys). This variant is present in population databases (rs371943668, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with OPA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1446789). 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. 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001987873 SCV002542081 uncertain significance not provided 2021-07-15 criteria provided, single submitter clinical testing
DBGen Ocular Genomics RCV003389505 SCV004101749 likely pathogenic Autosomal dominant optic atrophy classic form 2023-01-01 criteria provided, single submitter clinical testing Class 4 ACMG Guidelines, 2015

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