ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1313G>A (p.Gly438Glu) (rs72555367)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850556 SCV000992770 pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2012-07-03 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091796 SCV001248012 pathogenic not provided 2020-01-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001091796 SCV001446656 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Invitae RCV001382999 SCV001581998 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-10-20 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 438 of the GLB1 protein (p.Gly438Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with GM1 gangliosidosis and mucopolysaccharidosis IVB (PMID: 10841810, 19472408, 19472408, 21497194, 26646981, 23831247). ClinVar contains an entry for this variant (Variation ID: 940). This variant has been reported to affect GLB1 protein function (PMID: 19472408). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001091796 SCV001811050 pathogenic not provided 2020-03-27 criteria provided, single submitter clinical testing Functional studies found this variant is associated with significantly reduced beta-galactosidase activity (Hofer et al., 2009); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31216405, 22033734, 23831247, 15986423, 19472408, 20629163, 10841810)
OMIM RCV000000989 SCV000021139 pathogenic Mucopolysaccharidosis, MPS-IV-B 2021-05-04 no assertion criteria provided literature only

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