Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002648060 | SCV003522604 | uncertain significance | Mucopolysaccharidosis type 1 | 2022-08-01 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 517 of the IDUA protein (p.Pro517Arg). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with IDUA-related conditions. 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: "Tolerated"; PolyPhen-2: "Possibly 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. |
Ambry Genetics | RCV002648059 | SCV003745746 | uncertain significance | Inborn genetic diseases | 2022-09-28 | criteria provided, single submitter | clinical testing | The c.1550C>G (p.P517R) alteration is located in exon 11 (coding exon 11) of the IDUA gene. This alteration results from a C to G substitution at nucleotide position 1550, causing the proline (P) at amino acid position 517 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |