ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.97A>G (p.Thr33Ala)

dbSNP: rs747828462
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 RCV001240362 SCV001413298 uncertain significance Gastrointestinal stromal tumor; Paragangliomas 3 2023-03-04 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 965823). This variant has not been reported in the literature in individuals affected with SDHC-related conditions. This variant is present in population databases (rs747828462, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 33 of the SDHC protein (p.Thr33Ala).
Ambry Genetics RCV003166499 SCV003910950 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-01 criteria provided, single submitter clinical testing The p.T33A variant (also known as c.97A>G), located in coding exon 3 of the SDHC gene, results from an A to G substitution at nucleotide position 97. The threonine at codon 33 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.