ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.730G>A (p.Ala244Thr)

dbSNP: rs957444896
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058672 SCV001223259 uncertain significance Acute myeloid leukemia 2021-08-31 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with threonine at codon 244 of the CEBPA protein (p.Ala244Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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