Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671053 | SCV000795993 | pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001851520 | SCV002242979 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2021-06-03 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this variant affects GLB1 protein function (PMID: 16617000). 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 variant has been observed in individual(s) with GM1 gangliosidosis (PMID: 1907800). This variant is also known as c.186T>C. ClinVar contains an entry for this variant (Variation ID: 926). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 51 of the GLB1 protein (p.Ile51Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. |
OMIM | RCV000000974 | SCV000021124 | pathogenic | GM1 gangliosidosis type 3 | 1992-03-01 | no assertion criteria provided | literature only | |
Gene |
RCV001582457 | SCV001821208 | not provided | Infantile GM1 gangliosidosis | no assertion provided | literature only | High prevalence in Japan; associated with GM1 adult form |