ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.683_684delAG (rs762812025)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798175 SCV000937776 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-11-14 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHB gene (p.Glu228Glyfs*27). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 53 amino acids of the SDHB protein. This variant is present in population databases (rs762812025, ExAC 0.002%). This variant has been observed in several individuals affected with malignant paraganglioma (PMID: 24694336,16912137). ClinVar contains an entry for this variant (Variation ID: 438428). Different truncations (p.Ser239Tyrfs*8, deletion of exon 8) that lie downstream of this variant has been determined to be pathogenic (PMID: 15328326, Invitae). This suggests that deletion of this region of the SDHB protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV001025703 SCV001187946 pathogenic Hereditary cancer-predisposing syndrome 2019-03-09 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Section on Medical Neuroendocrinolgy,National Institutes of Health RCV000505318 SCV000599527 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.