Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233230 | SCV001405813 | pathogenic | not provided | 2022-07-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 959814). This variant has not been reported in the literature in individuals affected with IMPG2-related conditions. This sequence change creates a premature translational stop signal (p.Val553Glyfs*3) in the IMPG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IMPG2 are known to be pathogenic (PMID: 20673862). |
DBGen Ocular Genomics | RCV001587262 | SCV001815893 | pathogenic | Vitelliform macular dystrophy 5 | 2021-06-16 | criteria provided, single submitter | clinical testing |