Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Nemer Genomics and Translation Biomedicine Lab, |
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. |