ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4248C>A (p.Ala1416=)

dbSNP: rs1393358018
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002168268 SCV002345282 likely benign Tuberous sclerosis 2 2024-04-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004011209 SCV004841161 likely benign Tuberous sclerosis syndrome 2023-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004045039 SCV005036426 likely benign Hereditary cancer-predisposing syndrome 2023-12-21 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.

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