ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.756_757delinsCT (p.Leu253Phe)

dbSNP: rs2145260308
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001949774 SCV002201967 uncertain significance Acute myeloid leukemia 2021-01-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 253 of the CEBPA protein (p.Leu253Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals 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.

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