ClinVar Miner

Submissions for variant NM_004364.5(CEBPA):c.52C>T (p.His18Tyr)

dbSNP: rs1600024559
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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 RCV000822838 SCV000963655 uncertain significance Acute myeloid leukemia 2023-08-27 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 18 of the CEBPA protein (p.His18Tyr). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CEBPA protein function. ClinVar contains an entry for this variant (Variation ID: 664691). This variant has not been reported in the literature in individuals affected with CEBPA-related conditions. This variant is not present in population databases (gnomAD no frequency).
Sema4, Sema4 RCV002256551 SCV002531753 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-05 criteria provided, single submitter curation

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