ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.550C>T (p.Gln184Ter)

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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 RCV003781370 SCV004573426 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-04-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln184*) 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 premature translational stop signal has been observed in individual(s) with GM1-gangliosidosis (PMID: 29451896). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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