ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.202G>A (p.Gly68Arg)

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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 RCV002928292 SCV003267656 uncertain significance Erythrocytosis, familial, 3 2022-08-24 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 68 of the EGLN1 protein (p.Gly68Arg).
Ambry Genetics RCV004067149 SCV003868688 uncertain significance not specified 2023-02-15 criteria provided, single submitter clinical testing The p.G68R variant (also known as c.202G>A), located in coding exon 1 of the EGLN1 gene, results from a G to A substitution at nucleotide position 202. The glycine at codon 68 is replaced by arginine, an amino acid with dissimilar 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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