Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673140 | SCV000798310 | pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987140 | SCV001136361 | pathogenic | GM1 gangliosidosis type 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001175077 | SCV001338637 | pathogenic | GM1 gangliosidosis | 2020-04-08 | criteria provided, single submitter | clinical testing | Variant summary: GLB1 c.846delC (p.Thr283GlnfsX21) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 249510 control chromosomes (gnomAD). c.846delC has been reported in the literature in individuals affected with GM1 gangliosidosis (e.g. Coutinho_2012, Santamaria_2007). These data indicate that the variant is likely to be associated with disease. Two ClinVar submitters (evaluation after 2014) cite the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
Invitae | RCV003768002 | SCV004569314 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2023-05-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 557052). This premature translational stop signal has been observed in individual(s) with GM1-gangliosidosis (PMID: 17309651, 21214877). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr283Glnfs*21) 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). |