ClinVar Miner

Submissions for variant NM_003001.3(SDHC):c.*78G>A (rs182629842)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034691 SCV000043496 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000489409 SCV000577032 uncertain significance not specified 2017-04-12 criteria provided, single submitter clinical testing The A142T variant, present in an alternate transcript of the SDHC gene, was observed in 1/572 individuals with atherosclerosis, with no specific information about cancer history provided (Johnston et al., 2012). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Since Alanine and Threonine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. The A142T variant occurs at a position where amino acids with properties similar to Alanine are tolerated across species. In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, we consider A142T to be a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000320441 SCV000350268 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000415711 SCV000493802 uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes 2015-09-26 criteria provided, single submitter clinical testing

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.