ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.358A>G (p.Met120Val)

dbSNP: rs1555742209
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532393 SCV000627091 uncertain significance Acute myeloid leukemia 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 120 of the CEBPA protein (p.Met120Val). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. 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: 456681). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions.

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