Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000296082 | SCV000335207 | uncertain significance | not provided | 2015-09-15 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000664508 | SCV000788480 | uncertain significance | GNE myopathy | 2017-12-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001247004 | SCV001420401 | pathogenic | GNE myopathy; Sialuria | 2023-05-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on GNE protein function. ClinVar contains an entry for this variant (Variation ID: 283229). This missense change has been observed in individual(s) with GNE-related myopathy (PMID: 22507750, 24027297, 32505938). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs372732220, gnomAD 0.002%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 634 of the GNE protein (p.Leu634Phe). |
Revvity Omics, |
RCV000296082 | SCV003815068 | uncertain significance | not provided | 2022-06-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000664508 | SCV004199380 | likely pathogenic | GNE myopathy | 2023-10-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000664508 | SCV002075629 | uncertain significance | GNE myopathy | 2021-06-22 | no assertion criteria provided | clinical testing |