ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.723C>A (p.Cys241Ter)

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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 RCV004819026 SCV005439077 likely pathogenic Mucopolysaccharidosis, MPS-I-S 2023-06-22 criteria provided, single submitter clinical testing The stop gained variant c.723C>A p.Cys241Ter in the IDUA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is absent in the gnomAD Exomes. This variant is predicted to cause a loss of normal protein function through protein truncation. Loss of function variants has been previously reported to be disease causing Poletto et al., 2018. For these reasons, this variant has been classified as Likely Pathogenic.

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