ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.751dup (p.Glu251fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309825 SCV002603704 likely pathogenic Mucopolysaccharidosis, MPS-I-H/S 2022-02-19 criteria provided, single submitter clinical testing NM_000203.3(IDUA):c.751dupG(E251Gfs*148) is expected to be pathogenic in the context of mucopolysaccharidosis type I. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in IDUA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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