ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)

gnomAD frequency: 0.00001  dbSNP: rs1353058781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001862440 SCV002233895 pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects NAGLU function (PMID: 29979746). 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. ClinVar contains an entry for this variant (Variation ID: 830367). This missense change has been observed in individual(s) with mucopolysaccharidosis type III (PMID: 20852935, 26907177). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 497 of the NAGLU protein (p.Leu497Val).
GeneReviews RCV001030811 SCV001194300 not provided Mucopolysaccharidosis no assertion provided literature only

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