ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.293C>G (p.Thr98Arg)

dbSNP: rs1490895935
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001202924 SCV001374059 uncertain significance Acute myeloid leukemia 2024-10-17 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 98 of the CEBPA protein (p.Thr98Arg). 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. ClinVar contains an entry for this variant (Variation ID: 934518). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
GeneDx RCV003442760 SCV004170838 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004978091 SCV005558739 uncertain significance Inborn genetic diseases 2024-11-24 criteria provided, single submitter clinical testing The p.T98R variant (also known as c.293C>G), located in coding exon 1 of the CEBPA gene, results from a C to G substitution at nucleotide position 293. The threonine at codon 98 is replaced by arginine, 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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