ClinVar Miner

Submissions for variant NM_032638.5(GATA2):c.278C>T (p.Pro93Leu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004983644 SCV005596901 uncertain significance Inborn genetic diseases 2024-11-30 criteria provided, single submitter clinical testing The p.P93L variant (also known as c.278C>T), located in coding exon 2 of the GATA2 gene, results from a C to T substitution at nucleotide position 278. The proline at codon 93 is replaced by leucine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant 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.