ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2553C>T (p.Ala851=)

gnomAD frequency: 0.00001  dbSNP: rs745687916
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000873394 SCV001015378 likely benign Tuberous sclerosis 2 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001015908 SCV001176799 likely benign Hereditary cancer-predisposing syndrome 2018-01-24 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 RCV001712820 SCV001940284 likely benign not provided 2020-03-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000873394 SCV002039213 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001015908 SCV002531083 likely benign Hereditary cancer-predisposing syndrome 2021-07-29 criteria provided, single submitter curation
Revvity Omics, Revvity RCV000873394 SCV003821605 uncertain significance Tuberous sclerosis 2 2019-06-01 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003087 SCV004829053 likely benign Tuberous sclerosis syndrome 2023-11-20 criteria provided, single submitter clinical testing

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