National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia

Table 6 Characteristics of the identified SERPING1 variants of HAE type I and II patients

Patient	Confirmed HAE type	Identified variant in SERPING1 (reference gene NM_000062.2), dbSNP	Found in n index individuals (n total)	Pathogenicity	Reported before^a	Patient characteristics
Patient	Confirmed HAE type		Found in n index individuals (n total)	Pathogenicity	Reported before^a	Age	Gender	Attacks per 12 months
1	II	c.1396C > T,p.(Arg466Cys), rs28940870	1	Pathogenic	Not reported in ClinVar Mentioned in 12 manuscripts	63	Female	2
2	I	c.550G > A, p.(Gly184Arg), rs281875170	1	Pathogenic	Clinvar ID:79,144 Mentioned in 26 manuscripts	53	Female	48
3	I	c.1195C > T p.(Pro399Ser)	1	Pathogenic	Not reported in ClinVar (21,22)	55	Female	50
4	I	c.1312del, p.(Val438PhefsTer12)	1(2)	Likely pathogenic	Novel variant	34	Female	8
5	I	c.1312del, p.(Val438PhefsTer12)	1(2)	Likely pathogenic	Novel variant	62	Female	10
6	I	c.1249 + 4A > G, p.?	1 (2)	Likely pathogenic	Novel variant	35	Female	60
7	I	c.1249 + 4A > G, p.?	1 (2)	Likely pathogenic	Novel variant	58	Female	48
8	I	[GRCh38] chr11:g.57600729_57603011del	1	Pathogenic	Novel variant	32	Male	2

^aIf available ClinVar ID, and references if reported in few manuscripts, according to Mastermind.genomenon.com data [Access 18.06.2021]

ISSN: 1710-1492