ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.554A>C (p.His185Pro)

dbSNP: rs1064796754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482839 SCV000573798 likely pathogenic not provided 2017-03-06 criteria provided, single submitter clinical testing The H185P variant in the IDUA gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H185P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H185P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals, and in silico analysis predicts this variant is probably damaging to the protein structure/function. The H185P variant is a strong candidate for a pathogenic variant.

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