Disease: N/A, variant present in F12 gene

Patient: 36 yo, Female, Saudi descent

Variant:F12 NC_000005.9:g.176,830,269 G>A; p.Gly506Asp Homozygous mutation, exon 12 Located in peptidase S1 domain of F12

Family:

Consanguineous family history (parents first-degree cousins)

No family history of bleeding or thrombosis

Phenotypes:

Significantly high activated partial thromboplastin time

No history of bleeding during deliveries or tooth extractions

No history of thrombosis or skin manifestations

On no medications, physical examination unremarkable

Factor assays and VWF tests within normal ranges except Factor XII (Severely deficient)

variant is proposed to be deleterious but there is insufficient evidence to support this claim.