ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.848G>C (p.Cys283Ser)

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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 RCV003611224 SCV004478456 uncertain significance Erythrocytosis, familial, 3 2023-12-29 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 283 of the EGLN1 protein (p.Cys283Ser). This variant is present in population databases (rs751719158, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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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