ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2314C>G (p.Pro772Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004998036 SCV005625031 uncertain significance not provided 2024-08-14 criteria provided, single submitter clinical testing The EGFR c.2314C>G (p.Pro772Ala) variant has not been reported in individuals with EGFR-related conditions in the published literature. The frequency of this variant in the general population, 0.000008 (2/251236 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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