ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000001.10) (NC_000001.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
19546167 Bayley et al (2009) describe patients with multi-exon deletions with paraganglioma, including one individual with a deletion of exons 5 and 6 of the SDHC.
15342702 Baysal et al. (2004) described a multiplex "family with head and neck paragangliomas 8.37 kb SDHC deletion, which spans two AluY elements and removes exon 6." They identified the same deletion in a reportedly unrelated sporadic case; further investigation identified "allele sharing with the familial cases at seven polymorphic markers near SDHC, suggesting a common ancestral origin."
17667967 Pasini et al. (2008) described germline SDHC variants in individuals with paraganglioma and gastrointestinal stromal tumors. The authors identified one novel nonsense variant (c.43C>T; p. Arg15X) and one splice-site substitution (IVS5+1G>A or c.405+1G>A), which resulted in "exon 5 [being] spliced out, causing a frameshift and a stop codon in the 3? untranslated region of the gene."
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity