ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys) (rs72555365)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665872 SCV000790064 uncertain significance GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-03-03 criteria provided, single submitter clinical testing
Invitae RCV001376852 SCV001574038 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2020-02-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 482 of the GLB1 protein (p.Arg482Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Morquio B disease (PMID: 7586649). ClinVar contains an entry for this variant (Variation ID: 938). This variant has been reported to affect GLB1 protein function (PMID: 7586649). This variant disrupts the p.Arg482 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1928092, 15943552). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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 RCV000119100 SCV000021137 pathogenic Mucopolysaccharidosis, MPS-IV-B 1995-08-01 no assertion criteria provided literature only

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