ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3294C>T (p.Pro1098=)

gnomAD frequency: 0.00001  dbSNP: rs150126331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552377 SCV000644418 benign Tuberous sclerosis 2 2024-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001019748 SCV001181145 likely benign Hereditary cancer-predisposing syndrome 2019-08-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Illumina Laboratory Services, Illumina RCV001116224 SCV001274274 uncertain significance Tuberous sclerosis syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001553545 SCV001774432 likely benign not provided 2020-06-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000552377 SCV002039733 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001019748 SCV002533382 likely benign Hereditary cancer-predisposing syndrome 2022-01-27 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV001116224 SCV004826087 likely benign Tuberous sclerosis syndrome 2023-12-13 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.