Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000186593 | SCV000256433 | pathogenic | Joubert syndrome 23 | 2015-09-01 | criteria provided, single submitter | research | |
Ce |
RCV001091046 | SCV001246881 | pathogenic | not provided | 2017-08-01 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV001778778 | SCV002016273 | pathogenic | Neurodevelopmental disorder | 2021-06-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852435 | SCV002240543 | pathogenic | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2023-09-01 | 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: 204596). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26096313). This variant is present in population databases (rs770566897, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Gln288Argfs*7) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481, 26386044). |
Gene |
RCV001091046 | SCV003798585 | pathogenic | not provided | 2022-08-05 | criteria provided, single submitter | clinical testing | Frameshift 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; This variant is associated with the following publications: (PMID: 34611884, 26096313, 32581362, 26026149) |
OMIM | RCV000186593 | SCV000240169 | pathogenic | Joubert syndrome 23 | 2015-06-11 | no assertion criteria provided | literature only | |
NIHR Bioresource Rare Diseases, |
RCV001003980 | SCV001162006 | likely pathogenic | Congenital cerebellar hypoplasia; Rod-cone dystrophy; Intellectual disability | no assertion criteria provided | research |