ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.157G>A (p.Gly53Ser)

dbSNP: rs1967196253
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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 RCV001308122 SCV001497558 uncertain significance Acute myeloid leukemia 2022-03-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 53 of the CEBPA protein (p.Gly53Ser). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1010483). 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.
GenomeConnect - Invitae Patient Insights Network RCV001308122 SCV001749866 not provided Acute myeloid leukemia no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 08-19-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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