Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000780302 | SCV000746368 | pathogenic | Mucopolysaccharidosis, MPS-IV-B | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000665526 | SCV000789664 | pathogenic | GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780302 | SCV000917464 | pathogenic | Mucopolysaccharidosis, MPS-IV-B | 2017-11-16 | criteria provided, single submitter | clinical testing | Variant summary: The GLB1 c.1051C>T (p.Arg351X) variant results in a premature termination codon, predicted to cause a truncated or absent GLB1 protein due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 3/246162 control chromosomes at a frequency of 0.0000122, which does not exceed the estimated maximal expected allele frequency of a pathogenic GLB1 variant (0.0020412). The c.1051C>T has been reported in at least four affected, with residual GLB1 activity in their fibroblasts being less than 2% of normal via publications. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as pathogenic. Taken together, this variant is classified as pathogenic. |
Invitae | RCV001223149 | SCV001395284 | pathogenic | Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis | 2024-01-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg351*) 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 present in population databases (rs72555372, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with GM1-gangliosidosis (PMID: 10841810, 15714521). ClinVar contains an entry for this variant (Variation ID: 941). For these reasons, this variant has been classified as Pathogenic. |
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, |
RCV001642195 | SCV001519316 | pathogenic | Spastic ataxia | 2021-01-04 | criteria provided, single submitter | research | |
Baylor Genetics | RCV001331201 | SCV001523189 | pathogenic | Infantile GM1 gangliosidosis | 2020-10-09 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Gene |
RCV002225254 | SCV002504075 | pathogenic | not provided | 2022-03-22 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 21497194, 8922281, 25600812, 31367523, 25525159, 15714521, 22784478, 33240792, 33859490, 10841810) |
OMIM | RCV000000990 | SCV000021140 | pathogenic | GM1-gangliosidosis, type I, with cardiac involvement | 2019-05-14 | no assertion criteria provided | literature only |