ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.1809G>C (p.Pro603=)

dbSNP: rs112434645
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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 RCV001418891 SCV001621134 likely benign Tuberous sclerosis 1 2018-01-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004003186 SCV004833651 likely benign Tuberous sclerosis syndrome 2023-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029458 SCV005034626 likely benign Hereditary cancer-predisposing syndrome 2023-12-23 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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