The c.6806T>C, p.(Ile2269Thr) variant (rs193922228) has been reported in multiple individuals affected with MS or FBN1-related disorders (PMID:18435798, PMID: 17657824, PMID: 31098894, PMID: 25907466, PMID: 29848614, PMID: 19159394, and PMID: 19293843) [23,71,72,73,74,75,76] and is classified as pathogenic/likely pathogenic in ClinVar (variant ID 36107) [ClinVar database, available online at https://www.ncbi.nlm.nih.gov/clinvar/, (accessed on 26 July 2024)] [69]. The gene discussed is FBN1; the disease is myeloid sarcoma.