Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201592 | SCV000256506 | pathogenic | Joubert syndrome 6 | 2015-02-23 | criteria provided, single submitter | research | |
Fulgent Genetics, |
RCV002503793 | SCV002813877 | pathogenic | COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 | 2022-02-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002515477 | SCV003476422 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-11-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg764*) in the TMEM67 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TMEM67 are known to be pathogenic (PMID: 20232449, 23559409). This variant is present in population databases (no rsID available, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869, 27434533). ClinVar contains an entry for this variant (Variation ID: 217717). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV003128594 | SCV003805498 | pathogenic | not provided | 2023-02-08 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34853893, 32000717, 26092869, 27434533) |
Mayo Clinic Laboratories, |
RCV003128594 | SCV004226796 | pathogenic | not provided | 2022-11-22 | criteria provided, single submitter | clinical testing | PM2_supporting, PM3, PVS1 |