Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233538 | SCV001406138 | pathogenic | Mucopolysaccharidosis type 1 | 2019-09-30 | criteria provided, single submitter | clinical testing | This sequence change disrupts the translational stop signal of the IDUA mRNA. It is expected to extend the length of the IDUA protein by 55 additional amino acid residues. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect IDUA protein function (PMID: 29282708). This variant has been observed in several individuals affected with IDUA-related conditions (PMID: 21394825, 29282708). |
Gene |
RCV001233538 | SCV002016351 | not provided | Mucopolysaccharidosis type 1 | no assertion provided | literature only | Variant causes attenuated MPS I; predict extension of α-L-iduronidase at the carboxyl end that may change conformation and/or stability of enzyme. |