ClinVar Miner

Submissions for variant NM_000404.4(GLB1):c.1321G>A (p.Asp441Asn)

gnomAD frequency: 0.00002  dbSNP: rs780724173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666573 SCV000790883 likely pathogenic GM1 gangliosidosis type 2; GM1 gangliosidosis type 3; Mucopolysaccharidosis, MPS-IV-B; Infantile GM1 gangliosidosis 2017-04-13 criteria provided, single submitter clinical testing
Invitae RCV001049111 SCV001213145 pathogenic Mucopolysaccharidosis, MPS-IV-B; GM1 gangliosidosis 2023-12-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 441 of the GLB1 protein (p.Asp441Asn). This variant is present in population databases (rs780724173, gnomAD 0.006%). This missense change has been observed in individual(s) with GLB1-related conditions (PMID: 16941474, 17664528, 21497194). ClinVar contains an entry for this variant (Variation ID: 551496). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GLB1 function (PMID: 17664528). For these reasons, this variant has been classified as Pathogenic.

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