ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)

dbSNP: rs764196171
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665229 SCV000789313 likely pathogenic Hurler syndrome 2017-01-26 criteria provided, single submitter clinical testing
Invitae RCV001387754 SCV001588467 pathogenic Mucopolysaccharidosis type 1 2023-11-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr343*) 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 present in population databases (rs764196171, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 8019572, 9391892, 31298590). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 550474). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity Omics RCV003140058 SCV003818277 pathogenic not provided 2021-11-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001387754 SCV002075328 pathogenic Mucopolysaccharidosis type 1 2020-04-06 no assertion criteria provided clinical testing

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