ClinVar Miner

Submissions for variant NM_000368.5(TSC1):c.2503-11T>G

dbSNP: rs201568350
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764936 SCV001989469 uncertain significance not provided 2020-02-11 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002074006 SCV002370614 likely benign Tuberous sclerosis 1 2025-01-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004008995 SCV004815932 uncertain significance Tuberous sclerosis syndrome 2024-01-11 criteria provided, single submitter clinical testing This variant causes a T to G nucleotide substitution at the -11 position of intron 19 of the TSC1 gene. 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 1/251422 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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