ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3891C>G (p.Ala1297=)

dbSNP: rs373508609
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000558922 SCV000644484 likely benign Tuberous sclerosis 2 2024-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561917 SCV000675652 likely benign Hereditary cancer-predisposing syndrome 2016-03-24 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.
GeneDx RCV001584295 SCV001818332 likely benign not provided 2018-11-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000558922 SCV002039392 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000561917 SCV002533468 likely benign Hereditary cancer-predisposing syndrome 2021-12-01 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002497150 SCV002811277 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-09-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999301 SCV004818749 likely benign Tuberous sclerosis syndrome 2023-03-23 criteria provided, single submitter clinical testing

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