ClinVar Miner

Submissions for variant NC_000016.10:g.(?_2081575)_(2104662_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805913 SCV000945888 pathogenic Tuberous sclerosis 2 2021-08-12 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 31-42 of the TSC2 gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. A similar copy number variant has been observed in individual(s) with tuberous sclerosis complex (PMID: 17287951). This variant is also known as exons 30-41. This variant disrupts a region of the TSC2 protein in which other variant(s) (p.Phe1803Leufs*42) have been determined to be pathogenic (PMID: 24789117). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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