Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001385541 | SCV001585430 | pathogenic | Mucopolysaccharidosis, MPS-II | 2020-02-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with MPS II (PMID: 10738003, Invitae). ClinVar contains an entry for this variant (Variation ID: 558998). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr103*) in the IDS gene. It is expected to result in an absent or disrupted protein product. |
Mayo Clinic Laboratories, |
RCV000675883 | SCV000801609 | pathogenic | not provided | 2016-12-30 | no assertion criteria provided | clinical testing |