ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.19G>C (p.Ala7Pro)

gnomAD frequency: 0.00001  dbSNP: rs761183109
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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 RCV001051412 SCV001215565 uncertain significance EGFR-related lung cancer 2023-11-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 7 of the EGFR protein (p.Ala7Pro). This variant is present in population databases (rs761183109, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with EGFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 847793). 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 tolerated. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238288 SCV002009729 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258107 SCV002537336 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-14 criteria provided, single submitter curation

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