Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194226 | SCV000246343 | pathogenic | Joubert syndrome 3 | 2015-03-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000599258 | SCV000709788 | pathogenic | not provided | 2014-07-29 | criteria provided, single submitter | clinical testing | The G621X nonsense variant in the AHI1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been reported previously to our knowledge, G621X is interpreted as a disease-causing variant |
Invitae | RCV000820311 | SCV000961019 | pathogenic | Familial aplasia of the vermis | 2018-12-18 | criteria provided, single submitter | clinical testing | Loss-of-function variants in AHI1 are known to be pathogenic (PMID: 15322546, 16453322). This variant has not been reported in the literature in individuals with AHI1-related disease. ClinVar contains an entry for this variant (Variation ID: 210113). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly621*) in the AHI1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000194226 | SCV002813983 | likely pathogenic | Joubert syndrome 3 | 2022-04-27 | criteria provided, single submitter | clinical testing |