ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.107G>A (p.Gly36Asp)

gnomAD frequency: 0.00004  dbSNP: rs746522150
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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 RCV000526970 SCV000627079 uncertain significance Acute myeloid leukemia 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 36 of the CEBPA protein (p.Gly36Asp). This variant is present in population databases (rs746522150, gnomAD 0.007%). 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: 456669). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The aspartic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
GeneDx RCV002291655 SCV002584338 uncertain significance not provided 2022-04-13 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
Ambry Genetics RCV002527677 SCV003745424 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.107G>A (p.G36D) 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 107, causing the glycine (G) at amino acid position 36 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV000526970 SCV003928151 uncertain significance Acute myeloid leukemia 2023-04-14 criteria provided, single submitter clinical testing The CEBPA c.107G>A (p.Gly36Asp) missense change has a maximum subpopulation frequency of 0.0073% in gnomAD v2.1.1, however this data may be unreliable due to poor data quality at this location (https://gnomad.broadinstitute.org/). The in silico tool REVEL predicts a benign effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in individuals with familial acute myeloid leukemia. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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