ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln)

gnomAD frequency: 0.00025  dbSNP: rs150423237
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709010 SCV000838211 uncertain significance Hereditary cancer 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001048849 SCV001212874 uncertain significance EGFR-related lung cancer 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 675 of the EGFR protein (p.Arg675Gln). This variant is present in population databases (rs150423237, gnomAD 0.04%). 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: 134025). 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) performed at Invitae indicates that this missense variant is not expected to disrupt EGFR protein function with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV002055330 SCV002497516 uncertain significance not provided 2022-01-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257421 SCV002537337 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter curation
Revvity Omics, Revvity RCV002055330 SCV004234685 uncertain significance not provided 2023-11-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905146 SCV004718419 uncertain significance EGFR-related condition 2024-02-06 criteria provided, single submitter clinical testing The EGFR c.2024G>A variant is predicted to result in the amino acid substitution p.Arg675Gln. This variant has been reported as a germline variant in individuals with central nervous system tumors and breast cancer (Table S5, Akhavanfard et al. 2021. PubMed ID: 33326033; Table S3, Guindalini et al. 2022. PubMed ID: 352645960) and as a somatic variant in a patient with non-small cell lung cancer (Table 2, Stein et al. 2017. PubMed ID: 28573640). This variant is reported in 0.037% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
ITMI RCV000120694 SCV000084855 not provided not specified 2013-09-19 no assertion provided reference population

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