ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser)

gnomAD frequency: 0.00004  dbSNP: rs137854168
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080839 SCV000285266 benign Tuberous sclerosis 2 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000231071 SCV000518099 likely benign not provided 2021-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28385778)
Ambry Genetics RCV000576038 SCV000675464 likely benign Hereditary cancer-predisposing syndrome 2018-05-16 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.
CeGaT Center for Human Genetics Tuebingen RCV000231071 SCV001150699 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000231071 SCV001476296 likely benign not provided 2020-04-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001080839 SCV002039601 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000576038 SCV002531024 likely benign Hereditary cancer-predisposing syndrome 2021-03-04 criteria provided, single submitter curation

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