ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)

dbSNP: rs1697335361
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045376 SCV001209224 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-11-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 842879). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GLB1-related conditions. This sequence change creates a premature translational stop signal (p.Ser433Phefs*23) in the GLB1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLB1 are known to be pathogenic (PMID: 18524657). This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV002307662 SCV002603837 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Infantile GM1 gangliosidosis 2022-04-01 criteria provided, single submitter clinical testing NM_000404.2(GLB1):c.1298_1299delCT(S433Ffs*23) is expected to be pathogenic in the context of GLB1-related disorders. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in GLB1, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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