Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633471 | SCV000754700 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2019-11-20 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glutamine at codon 442 of the GLB1 protein (p.Arg442Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs564428355, ExAC 0.04%). This variant has been reported in the compound heterozygous state in individuals and families affected with GM1 gangliosidosis (PMID: 16314480, 18571950, 27679996, 21497194). Experimental studies have shown that this missense change impairs enzymatic activity in vitro (PMID: 16314480, 18571950). For these reasons, this variant has been classified as Pathogenic. |
Counsyl | RCV000666461 | SCV000790758 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-05-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000666461 | SCV000894315 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-10-31 | criteria provided, single submitter | clinical testing |