Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731805 | SCV000859657 | uncertain significance | not provided | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868967 | SCV002234477 | pathogenic | GNE myopathy; Sialuria | 2021-07-13 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 596088). This variant has not been reported in the literature in individuals affected with GNE-related conditions. This sequence change creates a premature translational stop signal (p.Thr3Profs*79) 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). |