ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.329G>T (p.Gly110Val)

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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 RCV002588065 SCV003491247 uncertain significance Erythrocytosis, familial, 3 2022-07-21 criteria provided, single submitter clinical testing 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 valine, which is neutral and non-polar, at codon 110 of the EGLN1 protein (p.Gly110Val). 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. 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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