ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.448G>T (p.Val150Phe)

dbSNP: rs1600023056
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819957 SCV000960645 uncertain significance Acute myeloid leukemia 2024-04-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 150 of the CEBPA protein (p.Val150Phe). 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: 662342). 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. 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.
Baylor Genetics RCV000819957 SCV005057306 uncertain significance Acute myeloid leukemia 2023-11-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004756043 SCV005355398 uncertain significance CEBPA-related disorder 2024-08-26 no assertion criteria provided clinical testing The CEBPA c.448G>T variant is predicted to result in the amino acid substitution p.Val150Phe. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant has an interpretation of uncertain significance in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/662342/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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