Submissions for variant NM_004364.5(CEBPA):c.576_577insTACCCG (p.Pro192_His193insTyrPro)

dbSNP: rs1555742103

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500636	SCV000593999	uncertain significance	not specified	2017-03-10	criteria provided, single submitter	clinical testing
Invitae	RCV001211145	SCV001382670	uncertain significance	Acute myeloid leukemia	2021-02-01	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. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 434687). 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, c.576_577insTACCCG, results in the insertion of 2 amino acid(s) to the CEBPA protein (p.Pro192_His193insTyrPro), but otherwise preserves the integrity of the reading frame.