ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1450C>T (p.His484Tyr)

dbSNP: rs2113114864
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Nemer Genomics and Translation Biomedicine Lab, American University of Beirut RCV002251310 SCV002520331 uncertain significance Alopecia, androgenetic, 1 no assertion criteria provided clinical testing Compound heterozygous mutation inheritance in FOXC1 and SMARCD1, our publication is in the review process to explain the clinical significance "Cases of Di-Genic Inheritance in Geno Dermatoses: Lessons from Consanguineous Cases in Lebanon" The His484Tyr variant in FOXC1 was absent from large population population studies. It has a deleterious effect(Steinhaus et al., 2021). It leads to heterozygous missense mutation with a predictive CADD score of 26.8, the other deleterious variant c.1051C>T (g.5537C>T) lin SMARCD1 leads to a heterozygous missense mutation (p.R351C) with a CADD score of 33.

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