ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.681C>T (p.Cys227=)

gnomAD frequency: 0.00034  dbSNP: rs45443205
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427770 SCV000515010 benign not specified 2015-08-07 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001082427 SCV000556497 benign Tuberous sclerosis 2 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000571297 SCV000675526 benign Hereditary cancer-predisposing syndrome 2016-01-21 criteria provided, single submitter clinical testing This alteration is classified as 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.
Eurofins Ntd Llc (ga) RCV000727275 SCV000707167 uncertain significance not provided 2017-03-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001082427 SCV002041089 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000571297 SCV002534093 benign Hereditary cancer-predisposing syndrome 2021-02-09 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000727275 SCV004221477 benign not provided 2017-12-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000043158 SCV004817001 benign Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing
Tuberous sclerosis database (TSC2) RCV000043158 SCV000066957 not provided Tuberous sclerosis syndrome no assertion provided curation
PreventionGenetics, part of Exact Sciences RCV004537178 SCV004753902 likely benign TSC2-related disorder 2019-11-19 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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