ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.802G>T (p.Gly268Cys)

dbSNP: rs1568419433
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000696760 SCV000825337 uncertain significance Acute myeloid leukemia 2023-06-20 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 268 of the CEBPA protein (p.Gly268Cys). This variant is not present in population databases (gnomAD no frequency). 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. 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 CEBPA protein function. ClinVar contains an entry for this variant (Variation ID: 574746). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions.

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