ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.202C>T (p.Arg68Trp) (rs72555370)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760159 SCV000889976 pathogenic Infantile GM1 gangliosidosis 2017-08-29 criteria provided, single submitter clinical testing
Invitae RCV001235447 SCV001408133 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 68 of the GLB1 protein (p.Arg68Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs72555370, ExAC 0.03%). This variant has been observed in several individuals affected with GM1 gangliosidosis (PMID: 12644936, 25936995). ClinVar contains an entry for this variant (Variation ID: 944). This variant has been reported to affect GLB1 protein function (PMID: 12644936). This variant disrupts the p.Arg68 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been observed in individuals with GLB1-related conditions (PMID: 29439846, 19472408), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
OMIM RCV000000993 SCV000021143 pathogenic GM1 gangliosidosis type 2 2003-07-01 no assertion criteria provided literature only

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