ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.3883+1G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004016495 SCV004829221 uncertain significance Tuberous sclerosis syndrome 2023-09-17 criteria provided, single submitter clinical testing This variant causes a G to C nucleotide substitution at the +1 position of intron 32 of the TSC2 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. However, multiple splice site variants at this position in exon 32 have been classified as Variants of Uncertain Significance due to alternative splicing of exon 31, equivalent to exon 32 by alternate numbering (PMID: 26703369; ClinVar variation ID: 1021490, 1314110). To our knowledge, functional 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.

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