ClinVar Miner

Submissions for variant NM_000263.4(NAGLU):c.1744G>C (p.Ala582Pro)

dbSNP: rs144238669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000314943 SCV000341997 uncertain significance not provided 2016-05-10 criteria provided, single submitter clinical testing
Invitae RCV002518010 SCV003441890 likely pathogenic Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 2023-10-12 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 582 of the NAGLU protein (p.Ala582Pro). This variant is present in population databases (rs144238669, gnomAD 0.002%). This missense change has been observed in individuals with mucopolysaccharidosis type III (PMID: 21204211, 22976768). ClinVar contains an entry for this variant (Variation ID: 288019). 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. Experimental studies have shown that this missense change affects NAGLU function (PMID: 29979746). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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