ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro)

dbSNP: rs886042073
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000341295 SCV000331011 likely pathogenic not provided 2016-06-01 criteria provided, single submitter clinical testing
Centogene AG - the Rare Disease Company RCV001250255 SCV001424460 pathogenic Mucopolysaccharidosistype IIIB criteria provided, single submitter clinical testing
Invitae RCV003765584 SCV004585883 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-02-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with proline, which is neutral and non-polar, at codon 234 of the NAGLU protein (p.Arg234Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of mucopolysaccharidosis type IIIB (PMID: 33083013). ClinVar contains an entry for this variant (Variation ID: 280994). 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 NAGLU protein function. This variant disrupts the p.Arg234 amino acid residue in NAGLU. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9832037, 11286389, 18218046, 30070758). 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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