ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.922C>G (p.Arg308Gly)

dbSNP: rs201144475
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084556 SCV000765832 benign Tuberous sclerosis 2 2023-12-12 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257374 SCV002534123 likely benign Hereditary cancer-predisposing syndrome 2020-11-10 criteria provided, single submitter curation
GeneDx RCV000034667 SCV002571481 uncertain significance not provided 2022-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18466115)
Ambry Genetics RCV002257374 SCV003867456 likely benign Hereditary cancer-predisposing syndrome 2022-11-21 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.
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000034667 SCV000043522 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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