ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.744dup (p.Arg249fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DNA-diagnostics Laboratory, Research Centre For Medical Genetics 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

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