ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3209C>T (p.Thr1070Met)

gnomAD frequency: 0.00001  dbSNP: rs147989574
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491778 SCV000579614 likely benign Hereditary cancer-predisposing syndrome 2022-06-14 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.
Invitae RCV000542621 SCV000644411 likely benign Tuberous sclerosis 2 2024-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001577170 SCV001804508 likely benign not provided 2020-03-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV000542621 SCV002039718 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000491778 SCV002533376 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-05 criteria provided, single submitter curation

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