ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1699C>T (p.Gln567Ter)

gnomAD frequency: 0.00001  dbSNP: rs1295295164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389009 SCV001590213 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2022-01-19 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change creates a premature translational stop signal (p.Gln567*) in the GLB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acid(s) of the GLB1 protein. This variant has not been reported in the literature in individuals affected with GLB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1075413). This variant disrupts a region of the GLB1 protein in which other variant(s) (p.Lys578Arg) have been determined to be pathogenic (PMID: 8213816, 21497194, 25557439). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV003481105 SCV004226551 likely pathogenic not provided 2022-10-05 criteria provided, single submitter clinical testing PM2, PVS1_strong

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