ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.671T>G (p.Met224Arg)

dbSNP: rs118203426
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000005411 SCV001373859 likely pathogenic Tuberous sclerosis 1 2020-11-25 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been reported to affect TSC1 protein function (PMID: 18830229, 21309039, 20547222). This variant has been observed in individuals and families affected with tuberous sclerosis complex (PMID: 18830229, Invitae). ClinVar contains an entry for this variant (Variation ID: 5104). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with arginine at codon 224 of the TSC1 protein (p.Met224Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine.
OMIM RCV000005411 SCV000025593 pathogenic Tuberous sclerosis 1 2009-03-01 no assertion criteria provided literature only
Tuberous sclerosis database (TSC1) RCV000042336 SCV000066125 not provided Tuberous sclerosis syndrome no assertion provided curation

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.