ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1558C>T (p.Arg520Trp)

gnomAD frequency: 0.00004  dbSNP: rs992677795
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668984 SCV000793673 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2017-08-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868227 SCV002265466 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2024-10-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 520 of the NAGLU protein (p.Arg520Trp). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This missense change has been observed in individuals with NAGLU-related conditions (PMID: 16151907, 27590925, 37596900). ClinVar contains an entry for this variant (Variation ID: 553515). 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 NAGLU protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects NAGLU function (PMID: 11153910). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000668984 SCV003807630 likely pathogenic Mucopolysaccharidosis, MPS-III-B 2022-07-15 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PS4 moderated, PM2 moderated, PM3 moderated, PP3 supporting
CeGaT Center for Human Genetics Tuebingen RCV000675733 SCV004699125 likely pathogenic not provided 2024-01-01 criteria provided, single submitter clinical testing NAGLU: PM3:Strong, PM2, PP4, PS3:Supporting
Mayo Clinic Laboratories, Mayo Clinic RCV000675733 SCV000801449 likely pathogenic not provided 2017-04-25 no assertion criteria provided clinical testing

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