ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1525-11_1536del

dbSNP: rs1715233169
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377178 SCV001574437 likely pathogenic Mucopolysaccharidosis type 1 2023-02-14 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 11 (c.1525-11_1536del) 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). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1066233). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Revvity Omics, Revvity RCV001780281 SCV002023098 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing

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