ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.728_729dup (p.Pro244fs)

dbSNP: rs1597558200
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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 RCV000821088 SCV000961830 pathogenic T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2019-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in FOXN1 are known to be pathogenic (PMID: 10206641, 15180707). This variant has not been reported in the literature in individuals with FOXN1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro244Tyrfs*59) in the FOXN1 gene. It is expected to result in an absent or disrupted protein product.

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