ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.134_163del (p.Pro45_Ile55delinsLeu)

gnomAD frequency: 0.00001  dbSNP: rs1346240180
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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 RCV001304420 SCV001493700 uncertain significance Acute myeloid leukemia 2023-08-18 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant, c.134_163del, is a complex sequence change that results in the deletion of 11 and insertion of 1 amino acid(s) in the CEBPA protein (p.Pro45_Ile55delinsLeu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007268). 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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