ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1225G>C (p.Gly409Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004622412 SCV005116663 uncertain significance not specified 2024-05-20 criteria provided, single submitter clinical testing The p.G409R variant (also known as c.1225G>C), located in coding exon 5 of the EGLN1 gene, results from a G to C substitution at nucleotide position 1225. The glycine at codon 409 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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