ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.934C>T (p.Arg312Cys)

gnomAD frequency: 0.00002  dbSNP: rs748814440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001870200 SCV002127194 uncertain significance Erythrocytosis, familial, 3 2023-05-27 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1356650). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is present in population databases (rs748814440, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 312 of the EGLN1 protein (p.Arg312Cys).
Ambry Genetics RCV004039592 SCV002686346 uncertain significance not specified 2023-03-30 criteria provided, single submitter clinical testing The p.R312C variant (also known as c.934C>T), located in coding exon 2 of the EGLN1 gene, results from a C to T substitution at nucleotide position 934. The arginine at codon 312 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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