ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251348 SCV001426916 likely pathogenic Mucopolysaccharidosis type 1 2020-07-16 criteria provided, single submitter clinical testing Variant summary: IDUA c.1907_1917del11 (p.Val636GlyfsX19) causes a frameshift which results in an extension of the protein. The variant was absent in 249106 control chromosomes. c.1907_1917del11 has been reported in the literature in at least one individual affected with Mucopolysaccharidosis Type 1 (Bunge_1995). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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