Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000673692 | SCV000798925 | likely pathogenic | Hurler syndrome | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001232855 | SCV001405427 | pathogenic | Mucopolysaccharidosis type 1 | 2023-01-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln428Profs*83) 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). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 557537). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Prevention |
RCV003892522 | SCV004711031 | likely pathogenic | IDUA-related disorder | 2023-12-11 | criteria provided, single submitter | clinical testing | The IDUA c.1276_1282dup7 variant is predicted to result in a frameshift and premature protein termination (p.Gln428Profs*83). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in IDUA are expected to be pathogenic. This variant is interpreted as likely pathogenic. |