Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Foundation for Research in Genetics and Endocrinology, |
RCV002291513 | SCV002583303 | uncertain significance | Mucopolysaccharidosis, MPS-II | 2022-07-02 | criteria provided, single submitter | clinical testing | A Hemizygous missense variation in exon 4 of the IDS gene that results in the aminoacid substitution of Arginine for Proline at codon 157 was detected.The observed variant c.470C>G(p.Pro157Arg) has not been reported in the 1000 genomes and gnomAD database. The in silico prediction of the variant are possibly damaging by MutationTaster2. The reference codon is conserved across species.In summary, the variant meets our criteria to be classified as pathogenic.In summary, the variant meets our criteria to be classified as a variant of uncertain significance.Therefore, the variant meets our criteria to be classified as pathogenic based on absence from controls and in silico prediction models. |
| Gene |
RCV004812442 | SCV005437782 | uncertain significance | not provided | 2024-06-14 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |