ClinVar Miner

Submissions for variant NM_005228.5(EGFR):c.2866G>A (p.Asp956Asn)

dbSNP: rs104886026
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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 RCV001854575 SCV002148368 uncertain significance EGFR-related lung cancer 2021-04-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 956 of the EGFR protein (p.Asp956Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with EGFR-related conditions. ClinVar contains an entry for this variant (Variation ID: 132964). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Laboratory of Translational Genomics, National Cancer Institute RCV000119366 SCV000154273 not provided Endometrial carcinoma no assertion provided not provided

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