Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000084913 | SCV003787194 | pathogenic | not provided | 2022-08-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 98616). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GPR143-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Pro57Leufs*34) in the GPR143 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPR143 are known to be pathogenic (PMID: 15965158, 18978956, 19390656, 21541274, 26160353, 28211458). |
Retina International | RCV000084913 | SCV000117049 | not provided | not provided | no assertion provided | not provided |