ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3238T>C (p.Leu1080=)

dbSNP: rs1596384213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000929897 SCV001075535 likely benign Tuberous sclerosis 2 2022-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002320108 SCV002609540 likely benign Hereditary cancer-predisposing syndrome 2020-04-24 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.
All of Us Research Program, National Institutes of Health RCV004003225 SCV004830859 likely benign Tuberous sclerosis syndrome 2023-06-26 criteria provided, single submitter clinical testing

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