ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.576C>T (p.Asp192=)

gnomAD frequency: 0.00001  dbSNP: rs761704292
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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 RCV001083499 SCV000556514 benign Tuberous sclerosis 2 2024-12-04 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728148 SCV000855684 uncertain significance not provided 2017-07-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001083499 SCV002041078 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256287 SCV002534075 likely benign Hereditary cancer-predisposing syndrome 2020-10-29 criteria provided, single submitter curation
Ambry Genetics RCV002256287 SCV002650344 likely benign Hereditary cancer-predisposing syndrome 2018-04-12 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323552 SCV004028801 likely benign not specified 2023-07-27 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002062 SCV004816981 likely benign Tuberous sclerosis syndrome 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533226 SCV004741143 likely benign TSC2-related disorder 2019-09-09 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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