ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.826A>G (p.Met276Val)

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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 RCV003074911 SCV003459835 uncertain significance Erythrocytosis, familial, 3 2022-10-26 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 276 of the EGLN1 protein (p.Met276Val). This missense change has been observed in individual(s) with EGLN1-related conditions (PMID: 29790589). 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.
Revvity Omics, Revvity RCV003143465 SCV003831836 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing

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