ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4446C>T (p.Ser1482=)

gnomAD frequency: 0.00003  dbSNP: rs780955293
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463031 SCV000556689 likely benign Tuberous sclerosis 2 2025-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022495 SCV001184242 likely benign Hereditary cancer-predisposing syndrome 2019-05-20 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 RCV001564592 SCV001787778 likely benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000463031 SCV002039469 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002496809 SCV002808818 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2021-12-03 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002106 SCV004843595 likely benign Tuberous sclerosis syndrome 2023-10-23 criteria provided, single submitter clinical testing

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