Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708099 | SCV000837209 | pathogenic | Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly | 2022-10-14 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8-10 of the KIAA0586 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in KIAA0586 are known to be pathogenic (PMID: 26096313, 26166481, 26386044). A similar copy number variant has been observed in individuals with Joubert syndrome (PMID: 26386044). For these reasons, this variant has been classified as Pathogenic. |