Total submissions: 1
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. |