ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs) (rs1060503751)

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 RCV000477482 SCV000553981 pathogenic Gastrointestinal stroma tumor; Paragangliomas 4; Pheochromocytoma 2017-12-20 criteria provided, single submitter clinical testing This sequence change deletes 2 nucleotides from exon 4 of the SDHB mRNA (c.331_332delCT), causing a frameshift at codon 111. This creates a premature translational stop signal (p.Leu111Serfs*7) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDHB are known to be pathogenic. This particular variant has been reported in an individual with a paraganglioma (PMID: 19454582). This variant is also known as c.330_331del in the literature. For these reasons, this variant has been classified as Pathogenic.
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505308 SCV000599504 pathogenic Hereditary Paraganglioma-Pheochromocytoma Syndromes no assertion criteria provided research

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.