ClinVar Miner

Submissions for variant NC_000001.10:g.(?_17349097)_(17359646_?)dup

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
Invitae RCV001379640 SCV001577476 likely pathogenic Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2016-01-30 criteria provided, single submitter clinical testing This sequence change is a gross duplication of the genomic region encompassing a portion of exon 2 to exon 7 of the SDHB gene. The 5' breakpoint of this duplication is within exon 2 at c.127; the 3' boundary is likely confined to the intronic region between exons 7 and 8. The duplicated copy of this region is in tandem and may result in an absent or disrupted protein product. While this duplication has not been reported in the literature, other gross duplications in SDHB are known to be pathogenic (PMID: 19351833). Although this tandem duplication is expected to disrupt the protein, it has not been confirmed by published functional studies.  For these reasons, this variant has been classified as Likely 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.