ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.521C>T (p.Ser174Leu)

gnomAD frequency: 0.00001  dbSNP: rs747538587
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551476 SCV000644618 likely benign Tuberous sclerosis 2 2024-01-25 criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000590906 SCV000700121 uncertain significance Tuberous sclerosis syndrome 2016-10-01 criteria provided, single submitter research Found in patient having exome sequencing for an unrelated indication. No known history of Tuberous sclerosis complex. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review.
Ambry Genetics RCV001023750 SCV001185668 likely benign Hereditary cancer-predisposing syndrome 2022-12-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV000551476 SCV002041070 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Molecular Genetics Lab, CHRU Brest RCV003883156 SCV004697728 uncertain significance Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 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.