ClinVar Miner

Submissions for variant NC_000003.11:g.(?_33055538)_(33055812_?)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 RCV003111172 SCV003793190 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2022-08-09 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 15 of the GLB1 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. This variant has not been reported in the literature in individuals affected with GLB1-related conditions. This variant disrupts a region of the GLB1 protein in which other variant(s) (p.Pro549Leu) have been determined to be pathogenic (PMID: 17221873, 17309651, 21520340, 22234367). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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