ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.735T>G (p.Ser245Arg)

gnomAD frequency: 0.00008  dbSNP: rs764531356
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001232928 SCV001405501 uncertain significance Erythrocytosis, familial, 3 2023-08-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 245 of the EGLN1 protein (p.Ser245Arg). This variant is present in population databases (rs764531356, gnomAD 0.01%). ClinVar contains an entry for this variant (Variation ID: 959552). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.
Ambry Genetics RCV004033184 SCV002670671 uncertain significance not specified 2022-11-06 criteria provided, single submitter clinical testing The p.S245R variant (also known as c.735T>G), located in coding exon 1 of the EGLN1 gene, results from a T to G substitution at nucleotide position 735. The serine at codon 245 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.