ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.651C>G (p.Val217=)

gnomAD frequency: 0.00002  dbSNP: rs780004703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876282 SCV001018838 likely benign Tuberous sclerosis 2 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002363305 SCV002660137 likely benign Hereditary cancer-predisposing syndrome 2015-12-24 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.
All of Us Research Program, National Institutes of Health RCV004003112 SCV004816994 likely benign Tuberous sclerosis syndrome 2023-11-20 criteria provided, single submitter clinical testing This variant is located in the TSC2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis complex in the literature. This variant has been identified in 4/248756 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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