Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004334521 | SCV004050983 | uncertain significance | not specified | 2023-06-28 | criteria provided, single submitter | clinical testing | The p.P79L variant (also known as c.236C>T), located in coding exon 1 of the EGLN1 gene, results from a C to T substitution at nucleotide position 236. The proline at codon 79 is replaced by leucine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |