ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1045G>C (p.Asp349His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003340978 SCV004047898 uncertain significance Mucopolysaccharidosis, MPS-II criteria provided, single submitter clinical testing The missense variant c.1045G>C (p.Asp349His) in IDUA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp349His variant is novel (not in any individuals) in gnomAD exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The amino acid Asp at position 349 is changed to a His changing protein sequence and it might alter its composition and physico-chemical properties. The nucleotide c.1045G>C in IDUA is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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