ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)

gnomAD frequency: 0.00007  dbSNP: rs368139032
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001064212 SCV001229097 uncertain significance Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces serine with cysteine at codon 292 of the GLB1 protein (p.Ser292Cys). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and cysteine. This variant is present in population databases (rs368139032, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with GLB1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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