Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002926793 | SCV003253823 | uncertain significance | 5-Oxoprolinase deficiency | 2022-07-23 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 633 of the OPLAH protein (p.Asp633Asn). This variant is present in population databases (rs374664743, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with OPLAH-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 | RCV004066205 | SCV004053003 | uncertain significance | not specified | 2023-08-28 | criteria provided, single submitter | clinical testing | The c.1897G>A (p.D633N) alteration is located in exon 14 (coding exon 13) of the OPLAH gene. This alteration results from a G to A substitution at nucleotide position 1897, causing the aspartic acid (D) at amino acid position 633 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV002926793 | SCV005681651 | uncertain significance | 5-Oxoprolinase deficiency | 2024-04-04 | criteria provided, single submitter | clinical testing |