ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.644G>T (p.Gly215Val)

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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 RCV004910015 SCV005574829 uncertain significance not specified 2024-09-15 criteria provided, single submitter clinical testing The p.G215V variant (also known as c.644G>T), located in coding exon 1 of the EGLN1 gene, results from a G to T substitution at nucleotide position 644. The glycine at codon 215 is replaced by valine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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