Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001786755 | SCV002028681 | likely pathogenic | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign in association with AHI1-related ciliopathy to our knowledge; This variant is associated with the following publications: (PMID: 31964843) |
Labcorp Genetics |
RCV001868883 | SCV002234136 | pathogenic | Familial aplasia of the vermis | 2023-07-10 | criteria provided, single submitter | clinical testing | 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: 1326575). For these reasons, this variant has been classified as Pathogenic. This variant is present in population databases (rs776569081, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Lys210Asnfs*2) 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). |