Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
DNA- |
RCV004696590 | SCV005187274 | pathogenic | Hereditary angioedema type 1 | 2024-08-11 | criteria provided, single submitter | research | The pathogenic or likely pathogenic SERPING1 gene variants are detected in >90% of the HAE1/2 families and in >80% of the total HAE families (e.g., DOI: 10.1016/j.molimm.2008.05.007, 10.1159/2F000138883, 10.1016/j.molimm.2011.07.010). In our study, the heterozygous c.744dupC (p.Arg249Glnfs*8) variant in SERPING1 was observed in 1 HAE1 family and segregated with the disease in proband, her daughter and granddaughter. In summary, the c.744dupC variant in SERPING1 meets ACMG/ClinGen SVI guidance criteria to be classified as pathogenic: PVS1, PP4_Str, PM2_Sup, PP1 |