ClinVar Miner

Submissions for variant NM_000548.5(TSC2):c.2479_2481GTG[1] (p.Val828del)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768120 SCV000899053 uncertain significance Lymphangiomyomatosis; Focal cortical dysplasia type II; Tuberous sclerosis 2 2018-10-09 criteria provided, single submitter clinical testing TSC2 NM_000548.4 exon 22 p.Val828del (c.2482_2484del): This variant has not been reported in the literature. This variant is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, computational tools designed to predict splicing suggest a potential effect from this variant by activation of a cryptic acceptor. However, further studies are needed to understand its impact. This variant represents an in-frame deletion of 1 amino acid and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Invitae RCV000807636 SCV000947701 uncertain significance Tuberous sclerosis 2 2018-12-21 criteria provided, single submitter clinical testing This variant, c.2482_2484del, results in the deletion of 1 amino acid(s) of the TSC2 protein (p.Val828del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TSC2-related conditions. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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.

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