ClinVar Miner

Submissions for variant NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)

dbSNP: rs2145927881
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
Mayo Clinic Laboratories, Mayo Clinic RCV002261606 SCV002541502 uncertain significance not provided 2021-10-19 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV003447620 SCV004175273 likely pathogenic Congenital dyserythropoietic anemia type 4 2023-07-05 criteria provided, single submitter clinical testing The KLF1 c.649C>T variant is classified as Likely Pathogenic (PVS1, PM2) The KLF1 c.649C>T variant is a single nucleotide change which is predicted to result in premature termination of the protein product at codon 217 (PVS1). This variant is absent from population databases (PM2). The variant has been reported in the HGMD database: CM1621283 and has been reported as Uncertain significance by other diagnostic laboratories (ClinVar Variation ID: 1693737). It has not been reported in dbSNP.

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.