ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.590-2A>G

dbSNP: rs1252941339
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218712 SCV001390608 pathogenic Mucopolysaccharidosis type 1 2023-07-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 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 individual(s) with mucopolysaccharidosis type I (PMID: 28728811, 29705972). ClinVar contains an entry for this variant (Variation ID: 947603). 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.

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