Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Genetics and Genomics, |
RCV001269663 | SCV001449816 | likely pathogenic | not provided | 2016-02-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001880195 | SCV002139363 | pathogenic | Microphthalmia, syndromic 12 | 2023-03-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 988355). This premature translational stop signal has been observed in individual(s) with clinical features of RARB-related conditions (PMID: 35105264; Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser398*) in the RARB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 51 amino acid(s) of the RARB protein. |
Gene |
RCV001269663 | SCV003806089 | likely pathogenic | not provided | 2022-03-23 | criteria provided, single submitter | clinical testing | Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 51 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |