ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.-30_-30+11del

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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 RCV004010164 SCV004822174 uncertain significance Tuberous sclerosis syndrome 2023-04-03 criteria provided, single submitter clinical testing This variant causes a deletion of 12 nucleotides from the exon 1-intron 1 border within the 5' untranslated regon of the TSC2 gene. This variant is predicted to abolish the intron 1 splice donor site and result in aberrant splicing, however the consequence of this on TSC2 expression is unclear. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with tuberous sclerosis in the literature. This variant has been identified in 5/282500 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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