ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.104G>A (p.Arg35Gln)

dbSNP: rs1967200345
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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 RCV001206529 SCV001377840 uncertain significance Acute myeloid leukemia 2021-12-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 937506). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 35 of the CEBPA protein (p.Arg35Gln).

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