ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1142C>G (p.Ala381Gly)

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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 RCV004622414 SCV005116665 uncertain significance not specified 2024-06-05 criteria provided, single submitter clinical testing The p.A381G variant (also known as c.1142C>G), located in coding exon 3 of the EGLN1 gene, results from a C to G substitution at nucleotide position 1142. The alanine at codon 381 is replaced by glycine, 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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