ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.388G>A (p.Gly130Ser)

gnomAD frequency: 0.00021  dbSNP: rs919904139
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473665 SCV000548556 uncertain significance Acute myeloid leukemia 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 130 of the CEBPA protein (p.Gly130Ser). This variant is present in population databases (no rsID available, gnomAD 0.2%). 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: 408755). 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 with a negative predictive value of 80%. 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 RCV001821276 SCV002069373 uncertain significance not specified 2018-07-30 criteria provided, single submitter clinical testing
GeneDx RCV002275032 SCV002562354 uncertain significance not provided 2023-04-07 criteria provided, single submitter clinical testing 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; This variant is associated with the following publications: (PMID: 21455213)
Ambry Genetics RCV002525573 SCV003702095 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.388G>A (p.G130S) alteration is located in exon 1 (coding exon 1) of the CEBPA gene. This alteration results from a G to A substitution at nucleotide position 388, causing the glycine (G) at amino acid position 130 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV000473665 SCV004212542 uncertain significance Acute myeloid leukemia 2023-10-19 criteria provided, single submitter clinical testing

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