Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667780 | SCV000792284 | likely pathogenic | Hurler syndrome | 2017-06-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001244712 | SCV001417954 | pathogenic | Mucopolysaccharidosis type 1 | 2022-08-18 | 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: 552506). This premature translational stop signal has been observed in individual(s) with MPS I (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu535Phefs*25) 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). |