ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.355G>A (p.Val119Ile)

dbSNP: rs902740061
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001341447 SCV001535323 uncertain significance Acute myeloid leukemia 2023-09-12 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. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 119 of the CEBPA protein (p.Val119Ile). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage 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: 1038176). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated.
Sema4, Sema4 RCV002255649 SCV002531741 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-05 criteria provided, single submitter curation

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