ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.123G>A (p.Trp41Ter)

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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 RCV003593295 SCV004292271 pathogenic Mucopolysaccharidosis type 1 2022-11-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 21480867). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp41*) 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).

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