Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000532348 | SCV000638330 | pathogenic | GNE myopathy; Sialuria | 2022-06-27 | 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) performed at Invitae indicates that this missense variant is expected to disrupt GNE protein function. ClinVar contains an entry for this variant (Variation ID: 464102). This variant is also known as c.79C>T (p.Pro27Ser). This missense change has been observed in individuals with autosomal recessive GNE-related inclusion body myopathy (PMID: 15146476, 22231866). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 58 of the GNE protein (p.Pro58Ser). |
Natera, |
RCV001834779 | SCV002075666 | likely pathogenic | GNE myopathy | 2021-09-30 | no assertion criteria provided | clinical testing |