ClinVar Miner

Submissions for variant NM_001369369.1(FOXN1):c.114C>T (p.Ala38=)

gnomAD frequency: 0.00022  dbSNP: rs375724174
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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 RCV001407766 SCV005382670 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-07-29 reviewed by expert panel curation NM_001369369.1(FOXN1):c.114C>T (p.Ala38=) is a synonymous variant. SpliceAI predicts no impact to the splice consensus sequence (delta score 0.00) nor the creation of a new splice site (delta score<=0.08) and the nucleotide is not highly conserved (phyloP score -0.92) (BP4, BP7). In summary this variant meets criteria to be classified as likely benign for semidominant T-cell immunodeficiency, congenital alopecia, and nail dystrophy due to FOXN1 deficiency based on the ACMG/AMP criteria applied: BP4 and BP7 as specified by the ClinGen SCID VCEP FOXN1 subgroup.
Labcorp Genetics (formerly Invitae), Labcorp RCV001407766 SCV001609746 likely benign T-cell immunodeficiency, congenital alopecia, and nail dystrophy 2024-01-14 criteria provided, single submitter clinical testing

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