ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.1885dup (p.Tyr629fs) (rs750865703)

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 RCV000537063 SCV000651416 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-06-11 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SDHA gene (p.Tyr629Leufs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 36 amino acid residues of the SDHA protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SDHA-related disease. ClinVar contains an entry for this variant (Variation ID: 472365). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the disrupted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.