ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.325A>G (p.Lys109Glu)

gnomAD frequency: 0.00005  dbSNP: rs891489163
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343476 SCV001537462 uncertain significance Erythrocytosis, familial, 3 2023-01-21 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.02%). 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: 1039916). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 109 of the EGLN1 protein (p.Lys109Glu).

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