ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.976-10C>T

gnomAD frequency: 0.00001  dbSNP: rs765990217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000554329 SCV000644687 benign Tuberous sclerosis 2 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV001566191 SCV001789673 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000554329 SCV002041285 benign Tuberous sclerosis 2 2021-11-07 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV003999345 SCV004828961 uncertain significance Tuberous sclerosis syndrome 2023-06-08 criteria provided, single submitter clinical testing This variant causes a C to T nucleotide substitution at the -10 position of intron 10 of the TSC2 gene. Splice site prediction tools suggest that this variant may impact RNA splicing. 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 6/251232 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.
Myriad Genetics, Inc. RCV000554329 SCV005406047 benign Tuberous sclerosis 2 2024-09-05 criteria provided, single submitter clinical testing This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.

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