ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.5364T>C (p.Tyr1788=)

gnomAD frequency: 0.00011  dbSNP: rs367703283
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082783 SCV000285463 benign Tuberous sclerosis 2 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000229648 SCV000527248 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000575460 SCV000675567 likely benign Hereditary cancer-predisposing syndrome 2015-08-27 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.
Genome-Nilou Lab RCV001082783 SCV002040293 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000575460 SCV002534062 likely benign Hereditary cancer-predisposing syndrome 2021-12-17 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002500761 SCV002802373 likely benign Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 2022-01-10 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003998841 SCV004817932 likely benign Tuberous sclerosis syndrome 2023-12-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541378 SCV004760215 likely benign TSC2-related disorder 2022-09-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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