Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Medical Genetics and Human Genetics, |
RCV001250414 | SCV001364068 | likely pathogenic | Joubert syndrome 3 | criteria provided, single submitter | clinical testing | We could detect the variant c.1148A>G in the AHI1 gene in your patient in a homozygous state. Bioinformatic prediction programs predict the activation of a cryptic splice donor site. Several splice site mutations in the AHI1 gene have been described as the cause of Joubert's syndrome. According to the current state of knowledge, this is a probably pathogenic mutation (class IV). |