ClinVar Miner

Submissions for variant NM_003000.2(SDHB):c.311delinsGG (p.Asn104fs) (rs786201316)

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
Ambry Genetics RCV000163361 SCV000213898 pathogenic Hereditary cancer-predisposing syndrome 2019-03-18 criteria provided, single submitter clinical testing The c.311delAinsGG pathogenic mutation, located in coding exon 4 of the SDHB gene, results from the deletion of one nucleotide and insertion of two nucleotides at position 311, causing a translational frameshift with a predicted alternate stop codon (p.N104Rfs*15). This mutation has been described in a patient with a history of pheochromocytoma and head and neck paraganglioma (Benn DE et al. J Clin Endocrinol Metab. 2006;91(3):827-36). It was also identified in two related patients who were diagnosed with paraganglimoas in adolescence (Tufton N et al. Endocr Connect. 2019 Mar;8(3):162-172). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Invitae RCV000801474 SCV000941251 pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2019-05-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn104Argfs*15) in the SDHB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with pheochromocytoma and paraganglioma (PMID: 16317055, 25972245). This variant is also known as c.311delAinsGG in the literature. ClinVar contains an entry for this variant (Variation ID: 184177). Loss-of-function variants in SDHB are known to be pathogenic (PMID: 19454582, 19802898). For these reasons, this variant has been classified as Pathogenic.

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.