ClinVar Miner

Submissions for variant NM_000062.3(SERPING1):c.-22-155G>T

dbSNP: rs1945307391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Immunology and Histocompatibility, University of Thessaly RCV001090004 SCV001245414 pathogenic Hereditary angioedema type 1 criteria provided, single submitter clinical testing The c.-22-155G > T variant was detected in intron 1 of the SERPING1 gene in two unrelated male C1-INH HAE Type I patients (Vatsiou et al., 2020). Pedigree analysis was performed in one Greek family, in which the c.-22-155G > T variant co-segregated with C1-INH-HAE in all of the 4 analyzed patients, while it was absent from 3 healthy family members. Multiple bioinformatics tools predicted that the variant causes a deleterious effect. Degradation of the mutated allele was demonstrated by the loss of heterozygosity on the cDNA level. It was not detected amongst the 31360 individuals of the Genome Aggregation Database (gnomAD), indicating that it is not a common variant. Taking all the above into account and according to ACMG Guidelines (Criteria: PP1 criterion used as strong evidence, PS3, PS4, PM2, PP3, PP4) the variant is considered pathogenic.

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