ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2113445)_(2173972_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004582678 SCV005062268 pathogenic Tuberous sclerosis 2 2018-11-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the TSC2 protein. Other variant(s) that disrupt this region (p.Phe1803Leufs*42, p.Ser1761Leufs*60,  deletion of exons 31-42) have been determined to be pathogenic (PMID: 24789117, 25498131, 17287951, Invitae). This suggests that disruption of this region of the protein is causative of disease. Similar deletions of exons 15-42 (reported as e16-41del) have been observed in individuals affected with tuberous sclerosis complex (PMID: 17287951). This variant is a deletion of the genomic region encompassing exons 15-42 and part of intron 14 (c.1443+391_*35361del) of the TSC2 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product.

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