Clinical characteristics of two male patients with SLE with one confirmed for carrying a rare TLR7 variant
| Patients . | TLR7 mutation . | Allele frequency (gnomAD) . | Mutation effect (SIFT) . | Mutation effect CADD (MSC) . | Variant effect predictor score . | Current age . | Age at onset . | Autoimmune manifestation . | Other . |
|---|---|---|---|---|---|---|---|---|---|
| II.1 | | | | | | 29 years (deceased) | 1 year | SLE and autoimmune hemolytic anemia | Cerebrovascular accident |
| II.2 | c.2519T > G p.L840R | Not present | Deleterious (0.01) | Deleterious 22.5 (16.3) | Likely pathogenic 0.599 | 22 years | 3 years | SLE, ITP, and cervical lymphadenopathy | Iron deficiency anemia |
| Patients . | TLR7 mutation . | Allele frequency (gnomAD) . | Mutation effect (SIFT) . | Mutation effect CADD (MSC) . | Variant effect predictor score . | Current age . | Age at onset . | Autoimmune manifestation . | Other . |
|---|---|---|---|---|---|---|---|---|---|
| II.1 | | | | | | 29 years (deceased) | 1 year | SLE and autoimmune hemolytic anemia | Cerebrovascular accident |
| II.2 | c.2519T > G p.L840R | Not present | Deleterious (0.01) | Deleterious 22.5 (16.3) | Likely pathogenic 0.599 | 22 years | 3 years | SLE, ITP, and cervical lymphadenopathy | Iron deficiency anemia |
MSC, mutation significance cutoff.