Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001592853 | SCV001822888 | pathogenic | not provided | 2019-07-29 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); Canonical splice site variant in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28752568, 22976768) |
Myriad Genetics, |
RCV001810477 | SCV002060268 | likely pathogenic | Mucopolysaccharidosis, MPS-I-H/S | 2021-11-18 | criteria provided, single submitter | clinical testing | NM_000203.3(IDUA):c.1728-1G>C is a a canonical splice variant classified as likely pathogenic in the context of mucopolysaccharidosis type I. c.1728-1G>C has been observed in cases with relevant disease (PMID: 31194252). Functional assessments of this variant are not available in the literature. c.1728-1G>C has not been observed in population frequency databases. In summary, NM_000203.3(IDUA):c.1728-1G>C is a canonical splice variant that has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Invitae | RCV001249440 | SCV002219477 | pathogenic | Mucopolysaccharidosis type 1 | 2022-08-10 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 12 of the IDUA gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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). Disruption of this splice site has been observed in individuals with mucopolysaccharidosis type I (PMID: 22976768, 28752568). ClinVar contains an entry for this variant (Variation ID: 556064). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
Genome |
RCV001249440 | SCV001423448 | not provided | Mucopolysaccharidosis type 1 | no assertion provided | phenotyping only | Variant interpretted as Pathogenic and reported on 07-30-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Natera, |
RCV001249440 | SCV002075384 | pathogenic | Mucopolysaccharidosis type 1 | 2021-04-05 | no assertion criteria provided | clinical testing |