ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1147A>T (p.Lys383Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003073540 SCV003478378 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2022-08-05 criteria provided, single submitter clinical testing 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 variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys383*) 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).
Fulgent Genetics, Fulgent Genetics RCV005028217 SCV005658094 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2024-04-04 criteria provided, single submitter clinical testing

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