ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.518T>C (p.Leu173Pro)

dbSNP: rs397515617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541694 SCV000629973 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-05-22 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects GLB1 function (PMID: 17664528). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GLB1 protein function. ClinVar contains an entry for this variant (Variation ID: 68479). This missense change has been observed in individuals with mucopolysaccharidosis (PMID: 16941474; Invitae). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 173 of the GLB1 protein (p.Leu173Pro).
Fulgent Genetics, Fulgent Genetics RCV005031549 SCV005658113 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2024-02-13 criteria provided, single submitter clinical testing
Laboratory of Molecular Genetics MedGen RCV000059352 SCV000105915 not provided GM1 gangliosidosis type 2 no assertion provided not provided

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