ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.131A>G (p.Lys44Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004058361 SCV002689737 uncertain significance not specified 2023-07-30 criteria provided, single submitter clinical testing The p.K44R variant (also known as c.131A>G), located in coding exon 1 of the EGLN1 gene, results from an A to G substitution at nucleotide position 131. The lysine at codon 44 is replaced by arginine, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003094965 SCV003025569 uncertain significance Erythrocytosis, familial, 3 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 44 of the EGLN1 protein (p.Lys44Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1769859). 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 disruptive. 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.

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