ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) (rs376710410)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000256106 SCV000321730 pathogenic not provided 2020-08-13 criteria provided, single submitter clinical testing Published functional studies found L155R is associated with significantly reduced beta-galactosidase activity (Hofer et al., 2009); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 17309651, 19472408, 20175788, 31761138, 33240792)
Fulgent Genetics,Fulgent Genetics RCV000665871 SCV000894316 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
Invitae RCV000809706 SCV000949875 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-05-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 155 of the GLB1 protein (p.Leu155Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous / in combination with another GLB1 variant in several individuals affected with GM1-gangliosidosis, type I (PMID: 17309651, 25557439, 19472408, 20175788). ClinVar contains an entry for this variant (Variation ID: 265179). This variant has been reported to affect GLB1 protein function (PMID: 19472408). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000984003 SCV000790063 likely pathogenic Mucopolysaccharidosis, MPS-IV-B 2017-03-02 no assertion criteria provided clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000256106 SCV000801392 likely pathogenic not provided 2017-05-31 no assertion criteria provided clinical testing
GenomeConnect - GM1 RCV001175291 SCV001338910 not provided Infantile GM1 gangliosidosis no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 09-13-2014 by Lab or GTR ID 26957. GenomeConnect-GM1 assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant.

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