ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2884C>T (p.Arg962Cys)

dbSNP: rs17337451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061219 SCV001225953 uncertain significance EGFR-related lung cancer 2024-01-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 962 of the EGFR protein (p.Arg962Cys). This variant is present in population databases (rs17337451, gnomAD 0.01%). 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: 855873). 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.
Sema4, Sema4 RCV002259077 SCV002537677 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-18 criteria provided, single submitter curation

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