ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.439C>T (p.Gln147Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001289819 SCV001477812 likely pathogenic none provided 2020-02-27 criteria provided, single submitter clinical testing The SDHC c.439C>T; p.Gln147Ter variant is reported in the medical literature in an individual with paraganglioma (Schiavi 2005, Schiavi 2006). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant results in a premature termination codon in the last exon of the SDHC gene. While this may not lead to nonsense-mediated decay, it is expected to create a truncated SDHC protein. Based on available information, this variant is considered to be likely pathogenic. References: Schiavi F et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005 Oct 26;294(16):2057-63. Schiavi F et al. Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas. Ann Ny Acad Sci. 2006 1073: 190-197.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.