ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.1055A>G (p.Lys352Arg)

gnomAD frequency: 0.00003  dbSNP: rs775099224
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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 RCV000474816 SCV000548550 uncertain significance Acute myeloid leukemia 2024-04-15 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 352 of the CEBPA protein (p.Lys352Arg). This variant is present in population databases (rs775099224, gnomAD 0.009%). 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: 408749). 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 disruptive. 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 RCV003148744 SCV003836977 uncertain significance not provided 2024-11-12 criteria provided, single submitter clinical testing In silico analysis indicates 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)
Baylor Genetics RCV000474816 SCV004212548 uncertain significance Acute myeloid leukemia 2024-03-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV004022698 SCV004920792 likely benign Inborn genetic diseases 2024-08-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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