ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.205G>C (p.Val69Leu)

gnomAD frequency: 0.00006  dbSNP: rs931430574
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001951857 SCV002190894 uncertain significance Erythrocytosis, familial, 3 2023-12-04 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 69 of the EGLN1 protein (p.Val69Leu). This variant is present in population databases (no rsID available, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1417703). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV004043589 SCV003868601 uncertain significance not specified 2023-01-08 criteria provided, single submitter clinical testing The p.V69L variant (also known as c.205G>C), located in coding exon 1 of the EGLN1 gene, results from a G to C substitution at nucleotide position 205. The valine at codon 69 is replaced by leucine, an amino acid with highly 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.

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