ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.771C>A (p.Ile257=)

dbSNP: rs1060504854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001317623 SCV001508292 likely benign Tuberous sclerosis 1 2024-06-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402885 SCV002669902 likely benign Hereditary cancer-predisposing syndrome 2021-06-30 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 RCV004005090 SCV004833489 uncertain significance Tuberous sclerosis syndrome 2023-07-10 criteria provided, single submitter clinical testing This variant is located in the TSC1 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC1-related disorders in the literature. This variant has not been identified 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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