Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ocular Genomics Institute, |
RCV001376376 | SCV001573494 | likely pathogenic | Rod-cone dystrophy | 2021-04-08 | criteria provided, single submitter | research | The AHI1 c.3235C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1. Based on this evidence we have classified this variant as Likely Pathogenic. |
Fulgent Genetics, |
RCV002493913 | SCV002781654 | likely pathogenic | Joubert syndrome 3 | 2022-04-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002550234 | SCV003299351 | pathogenic | Familial aplasia of the vermis | 2023-12-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1079*) 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 present in population databases (rs761732432, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with AHI1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1065721). For these reasons, this variant has been classified as Pathogenic. |