ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.264G>A (p.Leu88=)

dbSNP: rs1466279830
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000940368 SCV001086230 likely benign Tuberous sclerosis 2 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001569812 SCV001793966 uncertain significance not provided 2022-04-07 criteria provided, single submitter clinical testing In-silico analysis, which includes splice 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
Genome-Nilou Lab RCV000940368 SCV002041049 likely benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002259061 SCV002533316 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-07 criteria provided, single submitter curation
Ambry Genetics RCV002259061 SCV002743745 likely benign Hereditary cancer-predisposing syndrome 2021-01-28 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.

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