ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2152C>T (p.Arg718Cys)

dbSNP: rs182538665
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460097 SCV000544492 likely benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002256248 SCV002531038 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter curation
Ambry Genetics RCV002256248 SCV002727008 likely benign Hereditary cancer-predisposing syndrome 2022-01-28 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.
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153598 SCV003843709 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing
GeneDx RCV003320645 SCV004025845 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Identified in a patient with clinically suspected tuberous sclerosis (Meng et al., 2021); This variant is associated with the following publications: (PMID: 32917966)

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