ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.518T>C (p.Leu173Pro) (rs397515617)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541694 SCV000629973 likely pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2017-08-11 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 173 of the GLB1 protein (p.Leu173Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in three individuals affected with mucopolysaccharidosis (PMID: 16941474, Invitae). ClinVar contains an entry for this variant (Variation ID: 68479). Experimental studies have shown that this missense change causes a dramatic reduction in GLB1 enzymatic activity in vitro (PMID: 17664528). 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.
Laboratory of Molecular Genetics MedGen RCV000059352 SCV000105915 not provided GM1 gangliosidosis type 2 no assertion provided not provided

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