ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.734G>A (p.Ser245Asn)

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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 RCV004055924 SCV002670391 uncertain significance not specified 2022-10-20 criteria provided, single submitter clinical testing The p.S245N variant (also known as c.734G>A), located in coding exon 1 of the EGLN1 gene, results from a G to A substitution at nucleotide position 734. The serine at codon 245 is replaced by asparagine, an amino acid with highly 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 RCV003611594 SCV004549965 uncertain significance Erythrocytosis, familial, 3 2024-01-27 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 245 of the EGLN1 protein (p.Ser245Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1758446). 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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