ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.1273G>A (p.Val425Ile)

gnomAD frequency: 0.00002  dbSNP: rs1472408827
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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 RCV001070672 SCV001235936 uncertain significance Erythrocytosis, familial, 3 2019-05-15 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 425 of the EGLN1 protein (p.Val425Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EGLN1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV004619512 SCV005116675 uncertain significance not specified 2024-05-13 criteria provided, single submitter clinical testing The c.1273G>A (p.V425I) alteration is located in exon 5 (coding exon 5) of the EGLN1 gene. This alteration results from a G to A substitution at nucleotide position 1273, causing the valine (V) at amino acid position 425 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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