Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665229 | SCV000789313 | likely pathogenic | Hurler syndrome | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001387754 | SCV001588467 | pathogenic | Mucopolysaccharidosis type 1 | 2023-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr343*) in the IDUA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in IDUA are known to be pathogenic (PMID: 11735025, 21480867). This variant is present in population databases (rs764196171, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with mucopolysaccharidosis type I (PMID: 8019572, 9391892, 31298590). 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: 550474). 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. |
Revvity Omics, |
RCV003140058 | SCV003818277 | pathogenic | not provided | 2021-11-17 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001387754 | SCV002075328 | pathogenic | Mucopolysaccharidosis type 1 | 2020-04-06 | no assertion criteria provided | clinical testing |