ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5232C>T (p.Leu1744=)

gnomAD frequency: 0.00001  dbSNP: rs772865175
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 RCV001087662 SCV000644620 likely benign Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000842005 SCV000983998 likely benign not provided 2018-04-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001087662 SCV002039932 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256376 SCV002534034 likely benign Hereditary cancer-predisposing syndrome 2022-03-12 criteria provided, single submitter curation
Ambry Genetics RCV002256376 SCV002645342 likely benign Hereditary cancer-predisposing syndrome 2019-12-16 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.

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.