Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003764504 | SCV004569527 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2022-12-06 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 933). 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 GLB1 protein function. This missense change has been observed in individual(s) with GLB1-related conditions (PMID: 1928092, 9203065). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 509 of the GLB1 protein (p.Trp509Cys). |
OMIM | RCV000000982 | SCV000021132 | pathogenic | Mucopolysaccharidosis, MPS-IV-B | 1991-11-01 | no assertion criteria provided | literature only |