Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000413387 | SCV000491160 | pathogenic | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | 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: 17304050, 15595939, 25782670) |
Invitae | RCV001056624 | SCV001221077 | pathogenic | Tuberous sclerosis 2 | 2019-01-01 | criteria provided, single submitter | clinical testing | Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic. Disruption of this splice site has been observed in several individuals affected with tuberous sclerosis (PMID: 15595939, 25782670, 8990012, 9829910). ClinVar contains an entry for this variant (Variation ID: 49675). This variant is not present in population databases (ExAC no frequency). This sequence change affects a donor splice site in intron 2 of the TSC2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. |
Genome- |
RCV001056624 | SCV002040909 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042937 | SCV000066734 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |