ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.21-3C>G

dbSNP: rs1670921815
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 RCV001232924 SCV001405497 pathogenic Gastrointestinal stromal tumor; Paragangliomas 3 2023-09-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change falls in intron 1 of the SDHC gene. It does not directly change the encoded amino acid sequence of the SDHC protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product. Other variant(s) that result in loss of exon 2 have been determined to be pathogenic (PMID: 19454582; Invitae). This suggests that this variant may also be clinically significant and likely to be disease-causing. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 2 and exons 2-3, but is expected to preserve the integrity of the reading-frame (Invitae). ClinVar contains an entry for this variant (Variation ID: 959549). This variant has been observed in individual(s) with paraganglioma-pheochromocytoma syndromes (Invitae). This variant is not present in population databases (gnomAD no frequency).

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.