Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory of Diagnosis and Therapy of Lysosomal Disorders, |
RCV001385540 | SCV005089107 | pathogenic | Mucopolysaccharidosis, MPS-II | 2024-06-07 | criteria provided, single submitter | literature only | Null variant (PVS1_VeryStrong), Prevalence of the variant significantly increased in affected individuals compared with controls (PS4_Supporting), Absent from controls (or at low frequency) in gnomAD database (PM2_Moderate), Patient’s phenotype or family history highly specific for the disease (PP4_Strong) |
| Mendelics | RCV001385540 | SCV002516568 | pathogenic | Mucopolysaccharidosis, MPS-II | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001385540 | SCV001585429 | pathogenic | Mucopolysaccharidosis, MPS-II | 2020-10-31 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 4 of the IDS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in IDS are known to be pathogenic (PMID: 8940265, 9875019). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individuals with mucopolysaccharidosis type II (PMID: 9921913, 27351199). This variant is also known as c.631+1G>A in the literature. This variant is not present in population databases (ExAC no frequency). |