ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.100C>A (p.Pro34Thr)

gnomAD frequency: 0.00002  dbSNP: rs996435066
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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 RCV001338310 SCV001531971 uncertain significance Acute myeloid leukemia 2023-04-19 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. 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. ClinVar contains an entry for this variant (Variation ID: 1035441). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 34 of the CEBPA protein (p.Pro34Thr).
Ambry Genetics RCV002546843 SCV003559402 uncertain significance Inborn genetic diseases 2021-06-11 criteria provided, single submitter clinical testing The c.100C>A (p.P34T) alteration is located in exon 1 (coding exon 1) of the CEBPA gene. This alteration results from a C to A substitution at nucleotide position 100, causing the proline (P) at amino acid position 34 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV001338310 SCV004212557 uncertain significance Acute myeloid leukemia 2023-08-30 criteria provided, single submitter clinical testing

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