ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.4351C>T (p.Arg1451Cys)

dbSNP: rs369553241
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465620 SCV000544570 likely benign Tuberous sclerosis 2 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001022340 SCV001184063 likely benign Hereditary cancer-predisposing syndrome 2023-03-28 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.
GeneDx RCV001568800 SCV001792734 likely benign not provided 2019-07-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 28191889, 27994516)
Genome-Nilou Lab RCV000465620 SCV002039855 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001022340 SCV002533529 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-09 criteria provided, single submitter curation

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