Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001049477 | SCV001213526 | pathogenic | Mucopolysaccharidosis type 1 | 2021-11-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 846228). This premature translational stop signal has been observed in individual(s) with Hurler syndrome (PMID: 12189649). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln584*) 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). |