Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001090771 | SCV001246486 | pathogenic | not provided | 2017-07-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
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, |
RCV002287468 | SCV004045807 | pathogenic | Autosomal dominant optic atrophy classic form | 2023-03-14 | criteria provided, single submitter | clinical testing | |
Prevention |
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. |