Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685038 | SCV000812509 | pathogenic | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2018-04-27 | criteria provided, single submitter | clinical testing | While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in an individual affected with Joubert syndrome (Invitae). Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Gln655*) in the KIAA0586 gene. It is expected to result in an absent or disrupted protein product. |