ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.163del (p.Ile55fs)

dbSNP: rs1575475703
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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 RCV000813662 SCV000954030 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2018-08-15 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile55Phefs*16) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual affected with GM1-gangliosidosis (PMID: 20175788). Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). For these reasons, this variant has been classified as Pathogenic.

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