ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.171_179+15del

dbSNP: rs1671156558
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 RCV001243668 SCV001416841 likely pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2019-10-23 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.171_179+15del) of the SDHC gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with SDHC-related conditions. Loss-of-function variants in SDHC are known to be pathogenic (PMID: 19454582, 24758179). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, 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.