ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.713G>A (p.Gly238Asp)

gnomAD frequency: 0.00008  dbSNP: rs188424977
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Severe Combined Immunodeficiency Variant Curation Expert Panel, ClinGen RCV000933885 SCV005382674 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-07-29 reviewed by expert panel curation The NM_001369369.1(FOXN1):c.713G>A (p.Gly238Asp) missense variant has a gnomADv2.1.1 PopMax filtering AF of 0.003236, based on 75/19954 alleles in the East Asian population, which is above the >0.00141 threshold for BS1. Expression vectors containing Foxn1 variants were transfected into HeLa cells along with the β5t-luciferase reporter construct, a well-defined transcriptional target of Foxn1. This variant resulted in 105% activity in the reporter assay compared to WT (PMID: 37419334). After a comprehensive literature search, the variant has not been identified in any individuals with T-cell immunodeficiency, congenital alopecia, and nail dystrophy. In summary, this variant meets criteria to be classified as likely benign for semidominant T-cell immunodeficiency, congenital alopecia, and nail dystrophy based on the ACMG/AMP criteria applied, as specified by the ClinGen SCID VCEP: BS1.
Labcorp Genetics (formerly Invitae), Labcorp RCV000933885 SCV001079594 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-01-25 criteria provided, single submitter clinical testing

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