ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.487T>G (p.Tyr163Asp)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004050149 SCV002634979 uncertain significance not specified 2022-02-07 criteria provided, single submitter clinical testing The p.Y163D variant (also known as c.487T>G), located in coding exon 1 of the EGLN1 gene, results from a T to G substitution at nucleotide position 487. The tyrosine at codon 163 is replaced by aspartic acid, an amino acid with highly dissimilar 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003096505 SCV003476985 uncertain significance Erythrocytosis, familial, 3 2023-01-11 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1743790). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 163 of the EGLN1 protein (p.Tyr163Asp).

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