ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.864C>T (p.Asp288=)

gnomAD frequency: 0.00003  dbSNP: rs780887572
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471683 SCV000556498 likely benign Tuberous sclerosis 2 2023-10-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018131 SCV001179322 likely benign Hereditary cancer-predisposing syndrome 2019-07-25 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.
Genome-Nilou Lab RCV000471683 SCV002041276 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001018131 SCV002534120 likely benign Hereditary cancer-predisposing syndrome 2021-07-21 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003884554 SCV004702622 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TSC2: BP4, BP7

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