ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)

dbSNP: rs1803200
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672277 SCV000797370 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-01-24 criteria provided, single submitter clinical testing
Invitae RCV002531313 SCV003227985 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2022-08-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln572*) in the GLB1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 106 amino acid(s) of the GLB1 protein. 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. This variant disrupts a region of the GLB1 protein in which other variant(s) (p.Tyr591Ser) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 556285).

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