ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.276G>C (p.Glu92Asp)

gnomAD frequency: 0.00014  dbSNP: rs992728216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501179 SCV000594506 likely benign not specified 2016-12-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002527244 SCV003512861 uncertain significance Erythrocytosis, familial, 3 2022-03-14 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 435034). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.03%). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 92 of the EGLN1 protein (p.Glu92Asp).

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