ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4716G>A (p.Thr1572=)

dbSNP: rs369346726
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206862 SCV000261656 benign Tuberous sclerosis 2 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336570 SCV002637694 likely benign Hereditary cancer-predisposing syndrome 2020-03-04 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.
Fulgent Genetics, Fulgent Genetics RCV002503811 SCV002804530 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003150980 SCV003839171 likely benign not specified 2022-09-13 no assertion criteria provided clinical testing

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