Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001902837 | SCV002157030 | uncertain significance | Erythrocytosis, familial, 3 | 2023-01-31 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1385249). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is present in population databases (no rsID available, gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 342 of the EGLN1 protein (p.Ile342Met). |
| Ambry Genetics | RCV004041354 | SCV002693753 | uncertain significance | not specified | 2023-12-14 | criteria provided, single submitter | clinical testing | The p.I342M variant (also known as c.1026A>G), located in coding exon 3 of the EGLN1 gene, results from an A to G substitution at nucleotide position 1026. The isoleucine at codon 342 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |