Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001377572 | SCV001574942 | likely pathogenic | Mucopolysaccharidosis type 1 | 2023-07-25 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 1066552). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant results in the deletion of part of exon 2 (c.299_299+1delinsAT) 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). |
Revvity Omics, |
RCV001780282 | SCV002016676 | pathogenic | not provided | 2023-04-20 | criteria provided, single submitter | clinical testing |