Total submissions: 2
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. |