Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198460 | SCV001369394 | likely pathogenic | Glaucoma, primary closed-angle | 2020-01-14 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2. |
Invitae | RCV002559265 | SCV002991279 | pathogenic | not provided | 2021-12-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 931662). This variant has not been reported in the literature in individuals affected with COL18A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg332Profs*81) in the COL18A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL18A1 are known to be pathogenic (PMID: 12415512, 25456301). For these reasons, this variant has been classified as Pathogenic. |