ClinVar Miner

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

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Total submissions: 4
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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 2019-12-01 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.

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