ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.1073C>T (p.Ala358Val)

dbSNP: rs577659401
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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 RCV000824252 SCV000965142 uncertain significance Acute myeloid leukemia 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 358 of the CEBPA protein (p.Ala358Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CEBPA-related disease. 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.

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