ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1728-2A>G

dbSNP: rs1553917699
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001247821 SCV001421266 pathogenic Mucopolysaccharidosis type 1 2024-09-19 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 of the IDUA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with MPS I (PMID: 22976768; internal data). ClinVar contains an entry for this variant (Variation ID: 557744). 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 RCV001784289 SCV002023105 pathogenic not provided 2020-04-22 criteria provided, single submitter clinical testing
Counsyl RCV000673922 SCV000799178 likely pathogenic Hurler syndrome 2018-04-06 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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