Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV001264188 | SCV001442290 | likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S | 2019-05-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002537667 | SCV003225766 | pathogenic | Mucopolysaccharidosis type 1 | 2022-08-20 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change creates a premature translational stop signal (p.Gln147*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 984179). For these reasons, this variant has been classified as Pathogenic. |