ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2571C>T (p.Tyr857=)

gnomAD frequency: 0.00001  dbSNP: rs774063865
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644291 SCV000765984 likely benign Tuberous sclerosis 2 2025-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424467 SCV002740301 likely benign Hereditary cancer-predisposing syndrome 2020-06-24 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.
Color Diagnostics, LLC DBA Color Health RCV000644291 SCV004360883 benign Tuberous sclerosis 2 2022-09-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004004030 SCV004824828 benign Tuberous sclerosis syndrome 2023-11-30 criteria provided, single submitter clinical testing

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