ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1167del (p.Met390fs)

dbSNP: rs2153022443
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894829 SCV002134675 pathogenic Mucopolysaccharidosis type 1 2021-07-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met390Trpfs*50) in the IDUA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. For these reasons, this variant has been classified as Pathogenic.

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