ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.703G>A (p.Gly235Ser)

gnomAD frequency: 0.00001  dbSNP: rs766019573
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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 RCV001910397 SCV002188295 uncertain significance Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2022-11-01 criteria provided, single submitter clinical testing 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. 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: 1419496). This variant has not been reported in the literature in individuals affected with GLB1-related conditions. This variant is present in population databases (rs766019573, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 235 of the GLB1 protein (p.Gly235Ser).

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