Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001244635 | SCV001417869 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-07-12 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 447 of the IDUA protein (p.Arg447Cys). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with IDUA-related conditions. ClinVar contains an entry for this variant (Variation ID: 969316). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Gene |
RCV001773555 | SCV002001379 | uncertain significance | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
| Revvity Omics, |
RCV001773555 | SCV003809922 | uncertain significance | not provided | 2023-04-17 | criteria provided, single submitter | clinical testing | |
| Natera, |
RCV001244635 | SCV002075355 | uncertain significance | Mucopolysaccharidosis type 1 | 2020-06-12 | no assertion criteria provided | clinical testing |