ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.872A>G (p.Lys291Arg)

dbSNP: rs1656572784
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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 RCV001205055 SCV001376291 uncertain significance Erythrocytosis, familial, 3 2019-06-09 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 291 of the EGLN1 protein (p.Lys291Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EGLN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV004033636 SCV002685814 uncertain significance not specified 2022-03-07 criteria provided, single submitter clinical testing The p.K291R variant (also known as c.872A>G), located in coding exon 1 of the EGLN1 gene, results from an A to G substitution at nucleotide position 872. The lysine at codon 291 is replaced by arginine, 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.

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