Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987785 | SCV001137238 | pathogenic | Joubert syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549687 | SCV003314985 | pathogenic | Familial aplasia of the vermis | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu915Cysfs*64) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322, 28442542, 29186038). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of AHI1-related conditions (PMID: 32865313). ClinVar contains an entry for this variant (Variation ID: 802271). For these reasons, this variant has been classified as Pathogenic. |