Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667738 | SCV000792237 | likely pathogenic | GNE myopathy | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530723 | SCV003476636 | pathogenic | GNE myopathy; Sialuria | 2022-08-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552473). This variant has not been reported in the literature in individuals affected with GNE-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ile161Serfs*21) in the GNE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNE are known to be pathogenic (PMID: 24027297). |