ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) (rs564428355)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633471 SCV000754700 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-10-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 442 of the GLB1 protein (p.Arg442Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs564428355, ExAC 0.04%). This variant has been reported in the compound heterozygous state in individuals and families affected with GM1 gangliosidosis (PMID: 16314480, 18571950, 27679996, 21497194). Experimental studies have shown that this missense change impairs enzymatic activity in vitro (PMID: 16314480, 18571950). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000666461 SCV000790758 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-05-03 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000666461 SCV000894315 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV001568844 SCV001792786 pathogenic not provided 2021-02-16 criteria provided, single submitter clinical testing Published functional studies demonstrate that p.R344Q seriously impairs enzymatic activity, measured in transiently transfected COS-1 cells (Caciotti et al., 2005); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 27679996, 30838236, 20175788, 28879940, 18571950, 16314480, 28577204, 19472408, 21497194)

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