ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.938A>G (p.Asn313Ser)

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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 RCV003061397 SCV003459098 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2024-10-14 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 313 of the GLB1 protein (p.Asn313Ser). This variant is present in population databases (rs781080459, gnomAD 0.0009%). This missense change has been observed in individual(s) with biochemical features of GM1 gangliosidosis (internal data). ClinVar contains an entry for this variant (Variation ID: 2151550). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt GLB1 protein function with a positive predictive value of 95%. This variant disrupts the p.Asn313 amino acid residue in GLB1. Other variant(s) that disrupt this residue have been determined to be pathogenic (internal data). 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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