29 November 2023: Articles
Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
Rare disease
Lijun Liu B , Chanchan Hu B , Zhenjie Chen A* , Shuzhen Zhu B , Lvchang Zhu CDOI: 10.12659/AJCR.942377
Am J Case Rep 2023; 24:e942377
Table 2. The SHOC2 variant interpretation for the patient.
| Patient | |
|---|---|
| C.DNA change/protein change | C.4 (exon2) A>G (p.Ser2Gly) |
| Zygosity | Heterozygous |
| Inheritance | De novo |
| In silico analysis summary | Missense mutation, the second position of serine encoding in SHOC2 gene to be replaced by glycine |
| Frequency | The low-frequency variation with minor allele frequency (MAF) |
| Segregation analysis | Normal, wild type |
| Supporting literature/database records | C.4 (exon2) A>G previously reported as pathogenic |
| Patient’s phenotype | Phenotype consistent with a SHOC2 pathogenic variant |
| Variant classification | PS1+PS2+PM2+PP3=pathogenicPS1: the missense mutation, non-frameshift mutation or amino acid change that is the same as the confirmed pathogenic mutationPS2: the new mutation verified by both parentsPM2: the low-frequency variation with MAF |