Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001045376 | SCV001209224 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2021-11-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 842879). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GLB1-related conditions. This sequence change creates a premature translational stop signal (p.Ser433Phefs*23) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). This variant is not present in population databases (gnomAD no frequency). |
Myriad Genetics, |
RCV002307662 | SCV002603837 | likely pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis | 2022-04-01 | criteria provided, single submitter | clinical testing | NM_000404.2(GLB1):c.1298_1299delCT(S433Ffs*23) is expected to be pathogenic in the context of GLB1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GLB1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |