ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1634dup (p.Asn545fs) (rs754131566)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665150 SCV000789219 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV001380450 SCV001578531 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-04-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GLB1 gene (p.Asn545Lysfs*40). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 134 amino acids of the GLB1 protein. This variant is present in population databases (rs754131566, ExAC 0.001%). This variant has not been reported in the literature in individuals with GLB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 550413). This variant disrupts the C-terminus of the GLB1 protein. Other variant(s) that disrupt this region (p.Asp564Argfs*21) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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