ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.541C>T (p.Pro181Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004053049 SCV002649343 uncertain significance not specified 2021-07-08 criteria provided, single submitter clinical testing The p.P181S variant (also known as c.541C>T), located in coding exon 1 of the EGLN1 gene, results from a C to T substitution at nucleotide position 541. The proline at codon 181 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003611586 SCV004506428 uncertain significance Erythrocytosis, familial, 3 2023-01-20 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: 1747427). 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 proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 181 of the EGLN1 protein (p.Pro181Ser).

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