ClinVar Miner

Submissions for variant NM_001278716.2(FBXL4):c.827del (p.Asn276fs)

dbSNP: rs1240941970
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
Ambry Genetics RCV000623371 SCV000740823 pathogenic Inborn genetic diseases 2015-03-13 criteria provided, single submitter clinical testing
Invitae RCV002532821 SCV003472497 pathogenic not provided 2022-06-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn276Ilefs*15) in the FBXL4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FBXL4 are known to be pathogenic (PMID: 23993193, 23993194, 25868664). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 520628). This premature translational stop signal has been observed in individual(s) with FBXL4-related conditions (PMID: 29565416). This variant is present in population databases (no rsID available, gnomAD 0.003%).

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.