ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.694dup (p.Ala232fs) (rs1553611025)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667817 SCV000792322 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-06-14 criteria provided, single submitter clinical testing
Invitae RCV001048896 SCV001212925 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala232Glyfs*28) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GLB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 552535). Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). For these reasons, this variant has been classified as Pathogenic.

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