ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.627C>T (p.Thr209=)

gnomAD frequency: 0.00003  dbSNP: rs776293094
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704367 SCV000528832 likely benign not provided 2020-10-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000465242 SCV000556672 likely benign Tuberous sclerosis 2 2025-02-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV001025075 SCV001187197 likely benign Hereditary cancer-predisposing syndrome 2019-01-15 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.
Genome-Nilou Lab RCV000465242 SCV002041239 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001025075 SCV002534081 likely benign Hereditary cancer-predisposing syndrome 2021-12-26 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002488944 SCV002804109 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-03-30 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004000463 SCV004816991 likely benign Tuberous sclerosis syndrome 2024-01-03 criteria provided, single submitter clinical testing

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