Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Medical Genetics, |
RCV000011241 | SCV001480461 | pathogenic | Mucopolysaccharidosis, MPS-II | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000011241 | SCV002133833 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-10-23 | criteria provided, single submitter | clinical testing | This variant disrupts a region of the IDS protein in which other variant(s) (p.Leu530Phefs*8) have been determined to be pathogenic (PMID: 7581397, 17284421; external communication). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 10495). This premature translational stop signal has been observed in individual(s) with Hunter syndrome (PMID: 1303211). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp475*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 76 amino acid(s) of the IDS protein. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000011241 | SCV000031468 | pathogenic | Mucopolysaccharidosis, MPS-II | 1992-08-01 | no assertion criteria provided | literature only |