Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671048 | SCV000795988 | uncertain significance | GNE myopathy | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001861801 | SCV002170410 | pathogenic | GNE myopathy; Sialuria | 2020-11-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with GNE-related conditions. ClinVar contains an entry for this variant (Variation ID: 555259). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn28Lysfs*55) 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). |