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 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. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is not present in population databases (gnomAD no frequency). 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).
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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