Submissions for variant NM_000548.5(TSC2):c.482-5C>G

dbSNP: rs397515071

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001294706	SCV001483594	uncertain significance	Tuberous sclerosis 2	2024-08-21	criteria provided, single submitter	clinical testing	This sequence change falls in intron 5 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 998803). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health	RCV004004955	SCV004838506	uncertain significance	Tuberous sclerosis syndrome	2023-12-18	criteria provided, single submitter	clinical testing	This variant causes a C to G nucleotide substitution at the -5 position of the splice acceptor region of intron 5 of the TSC2 gene. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with TSC2-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.