ClinVar Miner

Submissions for variant NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) (rs202241429)

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
Ambry Genetics RCV000164473 SCV000215118 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Athena Diagnostics Inc RCV000439211 SCV000844550 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
GeneDx RCV000439211 SCV000515000 uncertain significance not provided 2018-03-07 criteria provided, single submitter clinical testing This variant is denoted TSC1 c.2065C>T at the cDNA level, p.Arg689Cys (R689C) at the protein level, and results in the change of an Arginine to a Cysteine (CGC>TGC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TSC1 Arg689Cys was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether TSC1 Arg689Cys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. Missense variants such as this one have rarely been found to be associated with disease; the vast majority of pathogenic variants in TSC1 pathogenic result in protein truncation (Au 2007, Northrup 2015).
Invitae RCV000232348 SCV000284691 benign Tuberous sclerosis 1 2017-09-11 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.