ClinVar Miner

Submissions for variant NC_000016.9:g.(?_2124181)_(2135047_?)dup

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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 RCV001963036 SCV002243484 pathogenic Tuberous sclerosis 2 2023-10-13 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving exons 1-35 of the TSC2 gene, including a copy number gain of exons 22-35. Although the exact nature of the event is unknown, it is likely that this is a large inversion event, that would either disrupt the transcription or result in a truncated protein product. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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