Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000667074 | SCV000791469 | pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-05-19 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001058421 | SCV001222988 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2020-08-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg457*) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs72555359, ExAC 0.001%). This variant has been observed in individual(s) with GM1 gangliosidosis (PMID:1909089, 25936995, 28976722, 30548430). ClinVar contains an entry for this variant (Variation ID: 924). Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001174734 | SCV001338023 | pathogenic | GM1 gangliosidosis | 2020-01-06 | criteria provided, single submitter | clinical testing | Variant summary: GLB1 c.1369C>T (p.Arg457X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant allele was found at a frequency of 1.6e-05 in 249532 control chromosomes (gnomAD). c.1369C>T has been reported in the literature in individuals affected with GM1 gangliosidosis (e.g. Nishimoto_1991, Santamaria_2007, Matalonga_2015). These data indicate that the variant is likely to be associated with disease. Cells expressing the variant were shown to have indetectable levels of acid beta-galactosidase enzymatic activity (Nishimoto_1991). One Clin Var submitter (evaluation after 2014 ) cited the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Nilou- |
RCV000000972 | SCV001810449 | pathogenic | Infantile GM1 gangliosidosis | 2021-07-22 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000000972 | SCV000021122 | pathogenic | Infantile GM1 gangliosidosis | 1991-09-01 | no assertion criteria provided | literature only |