ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003804437 SCV004596159 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-05-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val409*) 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). This variant has not been reported in the literature in individuals affected with GLB1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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