ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5313G>A (p.Pro1771=)

gnomAD frequency: 0.00004  dbSNP: rs765607686
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000456276 SCV000556628 benign Tuberous sclerosis 2 2024-01-17 criteria provided, single submitter clinical testing
GeneDx RCV001696906 SCV000721658 likely benign not provided 2020-01-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000456276 SCV002039946 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821318 SCV002070423 likely benign not specified 2021-12-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350009 SCV002640708 likely benign Hereditary cancer-predisposing syndrome 2019-11-13 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.

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