ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.1532C>A (p.Ser511Tyr)

gnomAD frequency: 0.00007  dbSNP: rs371114444
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059271 SCV001223892 uncertain significance EGFR-related lung cancer 2024-01-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 511 of the EGFR protein (p.Ser511Tyr). This variant is present in population databases (rs371114444, 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: 854259). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on EGFR protein function. 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.
Baylor Genetics RCV001294102 SCV001482915 uncertain significance Lung cancer 2020-06-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Sema4, Sema4 RCV002259075 SCV002537315 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-03 criteria provided, single submitter curation
GeneDx RCV003325537 SCV004031987 uncertain significance not provided 2023-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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