Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596855 | SCV000703667 | pathogenic | not provided | 2016-11-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001204406 | SCV001375612 | pathogenic | GNE myopathy; Sialuria | 2023-12-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His188Argfs*16) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with distal myopathy with rimmed vacuoles (PMID: 23549799). This variant is also known as His157fs. ClinVar contains an entry for this variant (Variation ID: 498582). For these reasons, this variant has been classified as Pathogenic. |