ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.140A>G (p.Gln47Arg)

dbSNP: rs73121547
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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 RCV001361197 SCV001557163 uncertain significance Erythrocytosis, familial, 3 2020-01-24 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with EGLN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces glutamine with arginine at codon 47 of the EGLN1 protein (p.Gln47Arg). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and arginine.

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