ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.623T>C (p.Phe208Ser)

gnomAD frequency: 0.00001  dbSNP: rs1347174767
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000817312 SCV000957864 uncertain significance Acute myeloid leukemia 2023-02-11 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 208 of the CEBPA protein (p.Phe208Ser). 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. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 660179). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEBPA protein function. 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.
Genetic Services Laboratory, University of Chicago RCV001816901 SCV002070807 uncertain significance not specified 2019-06-06 criteria provided, single submitter clinical testing
GeneDx RCV004588288 SCV005078472 uncertain significance not provided 2024-01-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004973003 SCV005558666 uncertain significance Inborn genetic diseases 2024-12-06 criteria provided, single submitter clinical testing The p.F208S variant (also known as c.623T>C), located in coding exon 1 of the CEBPA gene, results from a T to C substitution at nucleotide position 623. The phenylalanine at codon 208 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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