ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)

dbSNP: rs746766617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674066 SCV000799339 likely pathogenic Hurler syndrome 2018-04-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000807531 SCV000947588 pathogenic Mucopolysaccharidosis type 1 2022-05-25 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 348 of the IDUA protein (p.Asn348Lys). This variant is present in population databases (rs746766617, gnomAD 0.0009%). This missense change has been observed in individual(s) with IDUA-related conditions (PMID: 21394825, 23837464, 24875751). ClinVar contains an entry for this variant (Variation ID: 557870). 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 IDUA protein function. Experimental studies have shown that this missense change affects IDUA function (PMID: 24875751). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001784290 SCV002023087 pathogenic not provided 2021-09-03 criteria provided, single submitter clinical testing

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