ClinVar Miner

Submissions for variant NM_004364.4(CEBPA):c.724G>A (p.Gly242Ser) (rs530569305)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000225808 SCV000896721 uncertain significance Acute myeloid leukemia 2018-10-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509407 SCV000607018 not provided Autosomal dominant familial acute myeloid leukemia no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Invitae RCV000225808 SCV000288513 uncertain significance Acute myeloid leukemia 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 242 of the CEBPA protein (p.Gly242Ser). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and serine. While this variant is not present in population databases (rs530569305), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual affected with familial hematological malignancies with solid tumors (PMID: 19731081). ClinVar contains an entry for this variant (Variation ID: 239927). 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, but these predictions have not been confirmed by published functional studies. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. 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.

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