Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000411076 | SCV000486265 | likely pathogenic | GNE myopathy | 2016-04-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001388253 | SCV001589171 | pathogenic | GNE myopathy; Sialuria | 2023-11-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg160*) 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 present in population databases (rs372872777, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with GNE myopathy (PMID: 5182749, 24796702). ClinVar contains an entry for this variant (Variation ID: 370849). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV001782873 | SCV002024872 | pathogenic | not provided | 2023-10-27 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000411076 | SCV003844350 | pathogenic | GNE myopathy | 2023-02-01 | criteria provided, single submitter | clinical testing | Variant summary: GNE c.478C>T (p.Arg160X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar database. The variant was absent in 251360 control chromosomes. c.478C>T has been reported in the literature in individuals affected with GNE myopathy. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Natera, |
RCV000411076 | SCV002075663 | pathogenic | GNE myopathy | 2021-07-01 | no assertion criteria provided | clinical testing |