ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1354G>A (p.Glu452Lys)

gnomAD frequency: 0.00001  dbSNP: rs1183634153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090845 SCV001246599 pathogenic not provided 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV001377261 SCV001574547 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-10-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 452 of the NAGLU protein (p.Glu452Lys). This variant is present in population databases (no rsID available, gnomAD 0.02%). This missense change has been observed in individuals with mucopolysaccharidosis type III (PMID: 9950362, 14984474; Invitae). ClinVar contains an entry for this variant (Variation ID: 871076). 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. For these reasons, this variant has been classified as Pathogenic.

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