ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1729A>G (p.Thr577Ala)

dbSNP: rs1204749633
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012871 SCV001173384 likely benign Hereditary cancer-predisposing syndrome 2019-02-14 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.
Invitae RCV001201908 SCV001373000 likely benign Tuberous sclerosis 2 2023-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001201908 SCV002039571 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001012871 SCV002530991 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-04 criteria provided, single submitter curation
GeneDx RCV003327477 SCV004034826 uncertain significance not provided 2023-03-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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