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The current evidence for the association between TC2N (HGNC:19859) and von Willebrand disease (MONDO_0024574) is limited. In multi‐patient studies, TC2N was included in a resequencing panel of eight genes evaluated in 104 Swedish von Willebrand disease patients (PMID:33145474). Although common variants across the panel were examined, TC2N did not display a statistically significant enrichment of rare or low-frequency variants relative to control populations, and there were no noted reports of family segregation or additional affected relatives carrying TC2N variants (PMID:25832887).
Functional studies and mechanistic assessments in these reports did not separately interrogate the role of TC2N, providing no direct experimental evidence to support a pathogenic mechanism. Consequently, while TC2N remains of interest as a potential modifier within the context of von Willebrand factor level variation, its contribution to disease etiology is not definitively established. The limited genetic and experimental evidence currently restricts its clinical utility, though further studies may clarify its role.
Gene–Disease AssociationLimitedLimited evidence from multi‑patient studies without significant variant enrichment or familial segregation specific to TC2N (PMID:33145474, PMID:25832887). Genetic EvidenceLimitedTC2N was analyzed alongside other genes in large cohorts, yet no significant accumulation of pathogenic variants was observed in cases compared to controls. Functional EvidenceLimitedNo direct functional or mechanistic studies were performed for TC2N, limiting experimental support for its role in disease pathogenesis. |