ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.769_792+13del

dbSNP: rs1282958432
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672678 SCV000797810 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV001043055 SCV001206768 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-01-02 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 7 (c.769_792+13del) of the GLB1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has been observed in individual(s) with clinical features of GLB1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 556646). This variant disrupts a region of the GLB1 protein in which other variant(s) (p.Gly262Glu) have been observed in individuals with GLB1-related conditions (PMID: 25936995). 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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