. Author manuscript; available in PMC: 2023 Aug 24.

Published in final edited form as: J Allergy Clin Immunol. 2022 Dec 29;151(4):1040–1049.e5. doi: 10.1016/j.jaci.2022.11.027

TABLE II.

Pathogenetic data on the cohort with HAE at WUSM

Patient no.	Mutation			Protein	Region	ACMG/AMP classification	Recombinant secretion (μg/mL), mean ± SEM^*	P value for recombinant variant^†
Patient no.	Location	gDNA numbering	cDNA numbering	Protein	Region	ACMG/AMP classification	Recombinant secretion (μg/mL), mean ± SEM^*	P value for recombinant variant^†
101	Exon 3	g.57600081delA	c.255del	p.E85Dfs*63	N-terminus	Pathogenic^‡	nd	nd
201	Exon 3	g.57600217C>G	c.390C>G	p.C130W	N-terminus	VUS	18.0 ± 2.3	^§
301	Exon 3	g.57600321insA	c.494_495insA	p.N166Qfs*91	s6B	Pathogenic^‡	nd	nd
401	Exon 4	g.57602080dupC	c.600dup	p.K201Qfs*56^‖	Loop after Helix C	Pathogenic	nd	nd
501, 502, 503, 504	Exon 4	g.57602155T>G	c.671T>G	p.I224S	s2A strand	VUS	32.2 ± 2.8	^§
601	Exon 5	g.57606134_57606136delCAA	c.816_818del	p.N272del	Helix F/s3A	VUS	16.0 ± 1.6	^§
701	Exon 7	g.57611882C>G	c.1195C>G	p.P399A^¶	s2C	Likely pathogenic	0.2 ± 0.2	^§
702	Exon 7	g.57611732C>T	c.1045C>T	p.L349F^¶^#	Distal hinge (s2B)	VUS	34.7 ± 2.3	NS
	Exon 7	g.57611882C>G	c.1195C>G	p.P399A^¶	s2C	Likely pathogenic	0.2 ± 0.2	^§
801	Exon 8	g.57614490T>G	c.1412T>G	p.F471C	s4B	VUS^‡	ND	nd
901, 902, 903	Exon 1–2	g. 57595747_ 57599925del	Large deletion 4.18 kb	nd	nd	Pathogenic	nd	nd
1001	Exon 5–6	g. 57602806_ 57607631del	Large deletion 4.83 kb	nd	nd	Pathogenic	nd	nd
1101	Exon 5–7	g.57602806_57612500del	Large deletion 9.69 kb	nd	nd	VUS	nd	nd
1201	Exon 5	g.57606141_57606143delAAG	c.818_820del	p.K273del	Loop after Helix F	VUS	37.6 ± 0.9	NS
1301	Exon 5	g.57606141_57606143delAAG	c.818_820del	p.K273del	Loop after Helix F	VUS	37.6 ± 0.9	NS
1401	Exon 8	g.57614475G>A	c.1397G>A	p.R466H^‖	RCL-P1	Pathogenic	44.7 ± 3.3	NS

ACMG/AMP, American College of Medical Genetics/Association of Molecular Pathology; ND, not detected; NS, no significant difference; nd, not done.

WT recombinant C1-INH concentration, 36 ± 3.1 μg/mL (7 experiments with 95% CI ranging from 29.1 to 44.1 μg/mL).

^†

P values were computed by using 2-sided independent-sample t tests and comparing the results with those for the WT.

^‡

Novel mutation.

^§

P < .0001.

^‖

Two submitters reported in ClinVar.

^¶

One single submitter in ClinVar.

Variant c.1045C>T (p.L349A) has an MAF of 0.007% on gnomAD. The MAF information is not reported for other variants.