ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.310_315dup (p.Gly104_Asp105dup)

dbSNP: rs1420856782
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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 RCV001969381 SCV002260758 uncertain significance Acute myeloid leukemia 2021-04-09 criteria provided, single submitter clinical testing This variant, c.310_315dup, results in the insertion of 2 amino acid(s) to the CEBPA protein (p.Gly104_Asp105dup), but otherwise preserves the integrity of the reading frame. 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 variant has not been reported in the literature in individuals with CEBPA-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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