Total submissions: 3
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, |
RCV003144474 | SCV003829555 | likely pathogenic | not provided | 2022-01-06 | criteria provided, single submitter | clinical testing |