ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.955A>C (p.Ser319Arg)

dbSNP: rs1555741962
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631430 SCV000752503 uncertain significance Acute myeloid leukemia 2017-12-21 criteria provided, single submitter clinical testing 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. 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 and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CEBPA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 319 of the CEBPA protein (p.Ser319Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine.

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