ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.530G>A (p.Arg177His) (rs150437793)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000229109 SCV000287778 uncertain significance Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2018-12-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 177 of the SDHB protein (p.Arg177His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs150437793, ExAC 0.01%). This variant has been reported in a large family where it segregated with paragangliomas (PGL) or pheochromocytomas (PCC) in the family members (PMID: 25595276). Additionally, this variant has been reported in individuals with head and neck paragangliomas (PMID: 27867439). ClinVar contains an entry for this variant (Variation ID: 239433). Experimental studies in a yeast model system showed this variant had a mild effect on SDHB function (PMID: 23175444). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000567446 SCV000675079 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-26 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Conflicting evidence

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.