ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1650+5G>A

dbSNP: rs398123256
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000790663 SCV000225205 pathogenic not provided 2012-12-06 criteria provided, single submitter clinical testing
Counsyl RCV000173987 SCV000793192 likely pathogenic Hurler syndrome 2017-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001387944 SCV001588712 pathogenic Mucopolysaccharidosis type 1 2023-04-23 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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. This sequence change falls in intron 11 of the IDUA gene. It does not directly change the encoded amino acid sequence of the IDUA protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 12203999, 19396826, 21394825). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS11+5G>A. ClinVar contains an entry for this variant (Variation ID: 92634).
Revvity Omics, Revvity RCV000790663 SCV002016677 likely pathogenic not provided 2019-11-07 criteria provided, single submitter clinical testing

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