ClinVar Miner

Submissions for variant NC_000003.11:g.(?_33094963)_(33095061_?)del

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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 RCV004580950 SCV005066252 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-11-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 7 of the GLB1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). 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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