ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1111C>T (p.Arg371Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004595991 SCV005090901 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004595991 SCV005574804 uncertain significance not specified 2024-10-01 criteria provided, single submitter clinical testing The p.R371C variant (also known as c.1111C>T), located in coding exon 3 of the EGLN1 gene, results from a C to T substitution at nucleotide position 1111. The arginine at codon 371 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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