Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411761 | SCV000486512 | likely pathogenic | GNE myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766131 | SCV004578127 | pathogenic | GNE myopathy; Sialuria | 2023-07-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with GNE-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371049). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser504Profs*6) 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). |