<scp>SDHA</scp> related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

Abstract

The clinical spectrum of <i>SDHA</i>-associated neoplasia differs from that of germline mutations in other SDH-subunits. The interpretation of the significance of novel <i>SDHA</i> missense substitutions is challenging. We recommend that multiple investigations (e.g. tumor studies, metabolomic profiling) should be performed to aid classification of rare missense variants before genetic testing results are used to influence clinical management.