ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.175C>T (p.Arg59Cys) (rs756878418)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000597388 SCV000700521 pathogenic not provided 2017-03-03 criteria provided, single submitter clinical testing
Counsyl RCV000669165 SCV000793885 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-09-11 criteria provided, single submitter clinical testing
Mendelics RCV000987141 SCV001136362 pathogenic GM1 gangliosidosis type 2 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001050379 SCV001214482 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2019-11-28 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 59 of the GLB1 protein (p.Arg59Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs756878418, ExAC 0.02%). This variant has been observed in individual(s) with GM1 gangliosidosis (PMID: 15714521, 17309651, 16941474). ClinVar contains an entry for this variant (Variation ID: 496895). This variant has been reported to affect GLB1 protein function (PMID: 15714521). This variant disrupts the p.Arg59 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10338095, 16941474, 17664528, 17309651). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000597388 SCV001797803 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000597388 SCV001956633 pathogenic not provided no assertion criteria provided clinical testing

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