ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)

dbSNP: rs1715120993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001378444 SCV001576011 uncertain significance Mucopolysaccharidosis type 1 2021-09-17 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 302 of the IDUA protein (p.Pro302Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 28728811). ClinVar contains an entry for this variant (Variation ID: 1067236). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV003132488 SCV003809944 uncertain significance not provided 2021-06-09 criteria provided, single submitter clinical testing

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