ClinVar Miner

Submissions for variant NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)

dbSNP: rs1214495121
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673377 SCV000798574 uncertain significance Hurler syndrome 2018-03-14 criteria provided, single submitter clinical testing
Invitae RCV002532146 SCV003283102 pathogenic Mucopolysaccharidosis type 1 2024-01-18 criteria provided, single submitter clinical testing This variant, c.1073_1093del, results in the deletion of 7 amino acid(s) of the IDUA protein (p.His358_Thr364del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 31678774). 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: 557260). This variant disrupts a region of the IDUA protein in which other variant(s) (p.Thr364Met) have been determined to be pathogenic (PMID: 9391892, 10466419, 16435211, 29801497). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV003144474 SCV003829555 likely pathogenic not provided 2022-01-06 criteria provided, single submitter clinical testing

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