ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.426_438del (p.Asp142fs)

dbSNP: rs878855046
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000232991 SCV000290418 pathogenic Fanconi anemia 2017-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520). This sequence change deletes 13 nucleotides from exon 6 of the FANCL mRNA (c.426_438delTGCTTCTGGTAGA), causing a frameshift at codon 142. This creates a premature translational stop signal (p.Asp142Glufs*4) and is expected to result in an absent or disrupted protein product.

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.