ClinVar Miner

Submissions for variant NM_003849.4(SUCLG1):c.116G>A (p.Arg39Gln)

gnomAD frequency: 0.00006  dbSNP: rs372512876
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001317329 SCV001507986 uncertain significance Mitochondrial DNA depletion syndrome 9 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 39 of the SUCLG1 protein (p.Arg39Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs372512876, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with SUCLG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.
3billion RCV001317329 SCV005328705 likely benign Mitochondrial DNA depletion syndrome 9 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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.