ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.211G>A (p.Ala71Thr)

dbSNP: rs1555742260
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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 RCV000555779 SCV000627084 uncertain significance Acute myeloid leukemia 2017-01-18 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a CEBPA-related disease. This sequence change replaces alanine with threonine at codon 71 of the CEBPA protein (p.Ala71Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine.

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