Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003495105 | SCV004294416 | pathogenic | Familial aplasia of the vermis | 2023-02-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg435*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 15322546, 18054307). ClinVar contains an entry for this variant (Variation ID: 2011). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000002088 | SCV000022246 | pathogenic | Joubert syndrome 3 | 2004-09-01 | no assertion criteria provided | literature only |