ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.178C>T (p.Gln60Ter)

dbSNP: rs1577508801
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811149 SCV000951400 pathogenic Mucopolysaccharidosis type 1 2019-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant has been observed in individuals affected with mucopolysaccharidosis type I (PMID: 11735025, 17407067). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln60*) in the IDUA gene. It is expected to result in an absent or disrupted protein product.
Natera, Inc. RCV000811149 SCV002083087 pathogenic Mucopolysaccharidosis type 1 2021-10-11 no assertion criteria provided clinical testing

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