Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001912625 | SCV002177238 | uncertain significance | Erythrocytosis, familial, 3 | 2021-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with valine at codon 129 of the EGLN1 protein (p.Ala129Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with EGLN1-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 | RCV004041639 | SCV002620508 | uncertain significance | not specified | 2022-07-26 | criteria provided, single submitter | clinical testing | The p.A129V variant (also known as c.386C>T), located in coding exon 1 of the EGLN1 gene, results from a C to T substitution at nucleotide position 386. The alanine at codon 129 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |