ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.598C>G (p.His200Asp)

dbSNP: rs2145261016
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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 RCV002005647 SCV002273773 uncertain significance Acute myeloid leukemia 2021-04-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CEBPA-related conditions. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This sequence change replaces histidine with aspartic acid at codon 200 of the CEBPA protein (p.His200Asp). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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