Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001264829 | SCV001443027 | pathogenic | Joubert syndrome 3 | 2020-03-01 | criteria provided, single submitter | clinical testing | Review of the variants reported in Reuter et al., 2017, PMID: 28097321: PVS1,PM2,PM3 |
Revvity Omics, |
RCV001264829 | SCV002021195 | pathogenic | Joubert syndrome 3 | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001264829 | SCV002812467 | pathogenic | Joubert syndrome 3 | 2022-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002541620 | SCV003021589 | pathogenic | Familial aplasia of the vermis | 2024-01-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg610*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038). This variant is present in population databases (rs751734985, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 16541367, 28097321). ClinVar contains an entry for this variant (Variation ID: 984718). For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV001264829 | SCV004801224 | pathogenic | Joubert syndrome 3 | 2024-03-14 | criteria provided, single submitter | research |