ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.276G>A (p.Trp92Ter) (rs748830051)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670448 SCV000795300 pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-11-02 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000766231 SCV000891160 pathogenic Infantile GM1 gangliosidosis 2016-02-22 criteria provided, single submitter clinical testing The observed variant p.W92X in exon 3 of the GLB1 gene is a nonsense variant. The variant is present in gnomAD and ExAc database with an allele frequency of 0.00163 and 0.00000828 respectively. The variant is in trans with a frameshift variant in the same gene of this patient. In summary, this variant meets the ACMG criteria to be classified as pathogenic based upon the evidence stated above.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091797 SCV001248013 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001387511 SCV001588167 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp92*) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs748830051, ExAC 0.006%). This variant has been observed in individual(s) with GM1 gangliosidosis (PMID: 21520340). ClinVar contains an entry for this variant (Variation ID: 264673). Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). For these reasons, this variant has been classified as Pathogenic.

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