ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.305A>T (p.Asn102Ile)

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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 RCV004362743 SCV004097167 uncertain significance not specified 2023-06-15 criteria provided, single submitter clinical testing The p.N102I variant (also known as c.305A>T), located in coding exon 1 of the EGLN1 gene, results from an A to T substitution at nucleotide position 305. The asparagine at codon 102 is replaced by isoleucine, an amino acid with dissimilar 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.

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