ClinVar Miner

Submissions for variant NM_022051.3(EGLN1):c.287C>T (p.Ala96Val)

gnomAD frequency: 0.00236  dbSNP: rs113401862
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468849 SCV000546288 uncertain significance Erythrocytosis, familial, 3 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 96 of the EGLN1 protein (p.Ala96Val). This variant is present in population databases (rs113401862, gnomAD 0.7%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with EGLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 407206). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV000763841 SCV000894763 uncertain significance Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation 2018-10-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000468849 SCV001255236 benign Erythrocytosis, familial, 3 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.

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