SDHC
Overview
SDHC (Succinate Dehydrogenase Complex Subunit C) encodes a membrane-anchoring subunit of mitochondrial complex II (succinate dehydrogenase). Variants in SDHC have been associated with hereditary paraganglioma-pheochromocytoma syndrome. In the corpus, SDHC appears as a variant of uncertain significance (VOUS) identified through germline whole-exome sequencing in a pediatric oncology setting.
Alterations observed in the corpus
- SDHC G75D was identified as a germline variant of uncertain significance (VOUS) in a pediatric patient with B-cell lymphoblastic leukemia (BLL) in the PIPseq pediatric precision sequencing program (n=101 patients, Columbia University). Returned to the family under stringent criteria after evaluation by the molecular tumor board. PMID:28007021
Cancer types (linked)
- BLL: SDHC G75D VOUS identified in one patient; causal relationship to BLL not established. PMID:28007021
Co-occurrence and mutual exclusivity
- No co-occurrence data available in the corpus.
Therapeutic relevance
- No therapeutic implications established in the corpus for SDHC VOUS in BLL.
Open questions
- The clinical significance of SDHC G75D in a BLL patient is unresolved; functional validation is required to reclassify this variant. PMID:28007021
Sources
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