ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.217T>G (p.Phe73Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002295975 SCV002596364 uncertain significance Acute myeloid leukemia 2022-08-18 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 73 of the CEBPA protein (p.Phe73Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected 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. 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.
Ambry Genetics RCV003097914 SCV003556877 uncertain significance Inborn genetic diseases 2021-07-06 criteria provided, single submitter clinical testing The c.217T>G (p.F73V) alteration is located in exon 1 (coding exon 1) of the CEBPA gene. This alteration results from a T to G substitution at nucleotide position 217, causing the phenylalanine (F) at amino acid position 73 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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