ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.98_114del (p.Leu33fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003509455 SCV004314436 pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2023-08-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu33Profs*4) in the FOXN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FOXN1 are known to be pathogenic (PMID: 10206641, 15180707, 31447097). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with FOXN1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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