ClinVar Miner

Submissions for variant NC_000009.12:g.(?_132910551)_(132912477_?)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 RCV000560747 SCV000641476 pathogenic Tuberous sclerosis 1 2022-07-19 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 9-12 of the TSC1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). A similar copy number variant has been observed in individual(s) with tuberous sclerosis complex (PMID: 28065512). For these reasons, this variant has been classified as Pathogenic.

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