ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1574_1583del (p.Gly525fs)

dbSNP: rs2125463301
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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 RCV001952809 SCV002216243 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-03-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly525Aspfs*72) in the GLB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 153 amino acid(s) of the GLB1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GLB1-related conditions. This variant disrupts the C-terminus of the GLB1 protein. Other variant(s) that disrupt this region (p.Phe570Leufs*30) have been determined to be pathogenic (PMID: 17309651, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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