Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000478381 | SCV000566483 | pathogenic | not provided | 2019-07-02 | criteria provided, single submitter | clinical testing | Reported previously in a patient with hypopigmented macules, facial angiofibromas, shagreen patch, subependymal nodules, cortical tubers, seizures, and kidney tumors (Au et al., 1998); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 9463313) |
Invitae | RCV000818975 | SCV000959614 | pathogenic | Tuberous sclerosis 2 | 2019-11-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). This variant has been observed in several individuals affected with tuberous sclerosis complex (PMID: 9463313, 17304050, 21520333). ClinVar contains an entry for this variant (Variation ID: 49879). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe163Cysfs*25) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. |
Genome- |
RCV000818975 | SCV002040915 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043145 | SCV000066944 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |