ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.268del (p.Leu90fs)

dbSNP: rs869320684
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388973 SCV001590167 pathogenic Fanconi anemia 2021-02-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Fanconi anemia (PMID: 25754594). ClinVar contains an entry for this variant (Variation ID: 209076). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu90Phefs*6) in the FANCL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FANCL are known to be pathogenic (PMID: 19405097, 23613520).
OMIM RCV000191022 SCV000246000 pathogenic Fanconi anemia complementation group L 2015-05-01 no assertion criteria provided literature only
Leiden Open Variation Database RCV001195063 SCV001365348 pathogenic VATER association 2015-05-01 no assertion criteria provided curation Curator: Arleen D. Auerbach. Submitter to LOVD: Annalisa Vetro.

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.