ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1685dup (p.Asp564fs)

dbSNP: rs1697138071
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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 RCV001232770 SCV001405338 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-11-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg590 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16941474, 23430803, 17309651). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with GLB1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the GLB1 gene (p.Asp564Argfs*21). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 114 amino acids of the GLB1 protein.

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