ClinVar Miner

Submissions for variant NM_001805.4(CEBPE):c.581A>C (p.His194Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002725380 SCV002998409 uncertain significance Specific granule deficiency 2025-01-01 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 194 of the CEBPE protein (p.His194Pro). This variant is present in population databases (rs757986590, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CEBPE-related conditions. ClinVar contains an entry for this variant (Variation ID: 1958117). 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 disruptive. 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.
Ambry Genetics RCV004612237 SCV005105520 uncertain significance Inborn genetic diseases 2024-04-15 criteria provided, single submitter clinical testing The c.581A>C (p.H194P) alteration is located in exon 2 (coding exon 2) of the CEBPE gene. This alteration results from a A to C substitution at nucleotide position 581, causing the histidine (H) at amino acid position 194 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.