Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Immunology and Histocompatibility, |
RCV000851273 | SCV000993529 | likely pathogenic | Hereditary angioedema type 1 | criteria provided, single submitter | clinical testing | The c.878T>C (p.Ile293Thr) variant has been previously reported in association with hereditary angioedema in the literature (Pappalardo et al, 2000, Speletas et al., 2015, Loules et al., 2018) and in HAE database (http://hae.enzim.hu/detail.php?id=43). It was detected by our laboratory in one male C1-INH HAE Type I patient. It has never been detected in approximately 120000 individuals of the Exome Aggregation Consortium (ExAC), indicating that it is not a common variant. Bioinformatic tools SIFT and PolyPhen2 predict this variant as deleterious and possibly damaging, respectively. Taking all the above into account and according to ACMG Guidelines (Criteria: PM2, PP2, PP3, PP4, PP5) the variant is considered likely pathogenic. |