Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169277 | SCV000220583 | likely pathogenic | GNE myopathy | 2014-08-08 | criteria provided, single submitter | literature only | |
Fulgent Genetics, |
RCV002492689 | SCV002797357 | pathogenic | GNE myopathy; Sialuria | 2022-05-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002492689 | SCV003292791 | pathogenic | GNE myopathy; Sialuria | 2022-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln467*) 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 (rs786204558, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with clinical features of autosomal recessive GNE-related myopathy (PMID: 30390020). ClinVar contains an entry for this variant (Variation ID: 188916). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000169277 | SCV004191652 | pathogenic | GNE myopathy | 2023-04-20 | criteria provided, single submitter | clinical testing |