Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| SIB Swiss Institute of Bioinformatics | RCV002246207 | SCV002515922 | likely pathogenic | Cataract 1 multiple types | 2022-05-20 | criteria provided, single submitter | curation | This variant is interpreted as likely pathogenic for Cataract 1, multiple types, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PP1); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3); Novel missense change at an amino acid residue where a different missense change determined to be pathogenic has been seen before (PM5); Located in a mutational hot spot and/or critical and well-established functional domain (PM1). |
| Dept. |
RCV002246207 | SCV005081739 | likely pathogenic | Cataract 1 multiple types | 2023-01-21 | criteria provided, single submitter | curation | Variant identified and curated during a GJA8 specific review of the literature in relation to pediatric or congenital cataract. ACMG-AMP criteria applied: PP1(Strong), PS4(Supporting), PM1(Supporting), PM2(Supporting), PM5(Supporting), PP3. Original variant report: PMID:16397066;18587493. The cataract phenotype/s reported for this variant are: Lamellar pulverulent, and Nuclear with feather-like sutural opacity and prominent riders. Gene review and curation guidelines are outlined in: https://doi.org/10.1080/17469899.2023.2160320 |