ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.425_428del (p.Lys142fs)

dbSNP: rs1699765928
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806351 SCV002053877 pathogenic Infantile GM1 gangliosidosis criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001869565 SCV002236340 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-02-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1332777). This premature translational stop signal has been observed in individual(s) with GM1 gangliosidosis (PMID: 21497194). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys142Serfs*27) 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).

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