ClinVar Miner

Submissions for variant NM_130837.3(OPA1):c.2779-9A>G

dbSNP: rs1716524583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090771 SCV001246486 pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital Muenster RCV002287468 SCV002578000 likely pathogenic Autosomal dominant optic atrophy classic form 2022-08-04 criteria provided, single submitter clinical testing ACMG categories: PM2,PM6,PP3,PP4,PP5
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV002287468 SCV004045807 pathogenic Autosomal dominant optic atrophy classic form 2023-03-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003413905 SCV004106933 likely pathogenic OPA1-related condition 2023-07-26 criteria provided, single submitter clinical testing The OPA1 c.2779-9A>G variant is predicted to interfere with splicing. This variant has been reported in at least 2 individuals with optic atrophy (Table 2, Weisschuh et al. 2021. PubMed ID: 34242285; Schimpf. 2006. PubMed ID: 16323009; as c.2614-9A>G). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is predicted to abolish acceptor splice site (-66%; Alamut Visual Plus 1.6.1) and is assessed as likely pathogenic and pathogenic in ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/871026/). This variant is interpreted as likely pathogenic.

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