ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.575C>T (p.Pro192Leu)

gnomAD frequency: 0.00001  dbSNP: rs1247330890
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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 RCV001874291 SCV002122433 uncertain significance Acute myeloid leukemia 2021-11-14 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 192 of the CEBPA protein (p.Pro192Leu). 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 RCV004980796 SCV005558732 uncertain significance Inborn genetic diseases 2024-11-17 criteria provided, single submitter clinical testing The p.P192L variant (also known as c.575C>T), located in coding exon 1 of the CEBPA gene, results from a C to T substitution at nucleotide position 575. The proline at codon 192 is replaced by leucine, an amino acid with similar 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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