ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1316del (p.Leu439fs)

dbSNP: rs2151498933
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 RCV001387604 SCV001588275 pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2020-07-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change results in a premature translational stop signal in the FOXN1 gene (p.Leu439Argfs*111). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 210 amino acids of the FOXN1 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with autosomal dominant FOXN1 haploinsufficiency (PMID: 31447097). This variant is also known as c.1316_1316delT in the literature. This variant disrupts the C-terminus of the FOXN1 protein. Other variant(s) that disrupt this region (p.Gln489Argfs*61) have been determined to be pathogenic (PMID: 31566583). This suggests that variants that disrupt this region of the protein are likely to be causative of disease.

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.