ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.1376C>A (p.Ser459Ter)

dbSNP: rs745708044
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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 RCV001038501 SCV001201971 pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2019-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser459*) in the FOXN1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FOXN1 are known to be pathogenic (PMID: 10206641, 15180707, 31447097). This variant has not been reported in the literature in individuals with FOXN1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database.

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