Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264189 | SCV001442291 | likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S | 2020-01-14 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001335171 | SCV001528255 | pathogenic | Hurler syndrome | 2018-10-05 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV001880075 | SCV002243222 | pathogenic | Mucopolysaccharidosis type 1 | 2022-04-01 | 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: 984180). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. This variant is present in population databases (rs776305028, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Trp175*) 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). |