Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000597388 | SCV000700521 | pathogenic | not provided | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000669165 | SCV000793885 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-09-11 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987141 | SCV001136362 | pathogenic | GM1 gangliosidosis type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001050379 | SCV001214482 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2019-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 59 of the GLB1 protein (p.Arg59Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs756878418, ExAC 0.02%). This variant has been observed in individual(s) with GM1 gangliosidosis (PMID: 15714521, 17309651, 16941474). ClinVar contains an entry for this variant (Variation ID: 496895). This variant has been reported to affect GLB1 protein function (PMID: 15714521). This variant disrupts the p.Arg59 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10338095, 16941474, 17664528, 17309651). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |