ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.722T>C (p.Val241Ala)

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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 RCV004622380 SCV005116627 uncertain significance not specified 2024-04-10 criteria provided, single submitter clinical testing The p.V241A variant (also known as c.722T>C), located in coding exon 1 of the EGLN1 gene, results from a T to C substitution at nucleotide position 722. The valine at codon 241 is replaced by alanine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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