Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000521272 | SCV000620817 | likely pathogenic | not provided | 2017-09-21 | criteria provided, single submitter | clinical testing | The K42X variant in the ANO10 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The K42X variant is not observed in large population cohorts (Lek et al., 2016). We interpret K42X as a likely pathogenic variant. |
| Invitae | RCV000521272 | SCV004640361 | pathogenic | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys42*) in the ANO10 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ANO10 are known to be pathogenic (PMID: 25089919). This variant is present in population databases (rs768831597, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with ANO10-related conditions. ClinVar contains an entry for this variant (Variation ID: 452043). For these reasons, this variant has been classified as Pathogenic. |