ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1653C>T (p.Ala551=)

gnomAD frequency: 0.00001  dbSNP: rs202171361
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000573961 SCV000675472 likely benign Hereditary cancer-predisposing syndrome 2016-06-02 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.
GeneDx RCV001704689 SCV000730272 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644346 SCV000766039 likely benign Tuberous sclerosis 2 2024-11-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000644346 SCV002041367 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573961 SCV002530979 likely benign Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004001144 SCV004819296 likely benign Tuberous sclerosis syndrome 2023-10-02 criteria provided, single submitter clinical testing

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