ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3099C>T (p.Tyr1033=)

gnomAD frequency: 0.00011  dbSNP: rs45464800
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429909 SCV000517300 benign not specified 2015-06-16 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.
Invitae RCV000476405 SCV000556622 benign Tuberous sclerosis 2 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV001018603 SCV001179859 likely benign Hereditary cancer-predisposing syndrome 2017-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV000476405 SCV002039285 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001018603 SCV002533365 benign Hereditary cancer-predisposing syndrome 2020-10-07 criteria provided, single submitter curation

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