ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.419C>T (p.Ala140Val)

gnomAD frequency: 0.00009  dbSNP: rs768557500
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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 RCV000472506 SCV000546286 uncertain significance Erythrocytosis, familial, 3 2023-06-04 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: 407204). This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. This variant is present in population databases (rs768557500, gnomAD 0.02%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 140 of the EGLN1 protein (p.Ala140Val).
Ambry Genetics RCV004022617 SCV002628602 likely benign not specified 2022-10-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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