Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
IIFP, |
RCV000011232 | SCV000262530 | pathogenic | Mucopolysaccharidosis, MPS-II | 2012-12-13 | criteria provided, single submitter | research | |
Invitae | RCV000011232 | SCV000940520 | pathogenic | Mucopolysaccharidosis, MPS-II | 2023-06-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 10486). This premature translational stop signal has been observed in individuals with mucopolysaccharidosis II (PMID: 1303211, 18500569, 21291454, 21829674, 27146977). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg443*) in the IDS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the IDS protein. |
Department of Medical Genetics, |
RCV000011232 | SCV001480523 | pathogenic | Mucopolysaccharidosis, MPS-II | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV000011232 | SCV002014470 | pathogenic | Mucopolysaccharidosis, MPS-II | 2021-09-05 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV002287330 | SCV002577793 | pathogenic | Abnormality of lysosomal metabolism | 2021-12-20 | criteria provided, single submitter | clinical testing | ACMG categories: PVS1,PM2,PP5 |
OMIM | RCV000011232 | SCV000031459 | pathogenic | Mucopolysaccharidosis, MPS-II | 1993-01-01 | no assertion criteria provided | literature only | |
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, |
RCV000011232 | SCV001482335 | pathogenic | Mucopolysaccharidosis, MPS-II | 2019-05-31 | no assertion criteria provided | research | |
Natera, |
RCV001831559 | SCV002084457 | pathogenic | Mucopolysaccharidosis, MPS-III-A | 2020-12-08 | no assertion criteria provided | clinical testing |