ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3327G>A (p.Pro1109=)

gnomAD frequency: 0.00006  dbSNP: rs45478393
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166698 SCV000217506 likely benign Hereditary cancer-predisposing syndrome 2014-12-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Invitae RCV000558725 SCV000644424 benign Tuberous sclerosis 2 2024-01-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000558725 SCV002039312 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000166698 SCV002533385 likely benign Hereditary cancer-predisposing syndrome 2021-09-18 criteria provided, single submitter curation
Tuberous sclerosis database (TSC2) RCV000042510 SCV000066301 not provided Tuberous sclerosis syndrome no assertion provided curation

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