Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000484132 | SCV000568291 | pathogenic | not provided | 2019-09-12 | criteria provided, single submitter | clinical testing | Nonsense 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); Different substitutions (c.3099delC, c.3099 C>A, c.3099 C>G) resulting in the same protein change seen in this individual (p.Y1033X) have been reported in ClinVar and the TSC2 database (Landrum et al., 2016); This variant is associated with the following publications: (PMID: 11112665, 17304050) |
Invitae | RCV003511990 | SCV004296662 | pathogenic | Tuberous sclerosis 2 | 2023-04-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49733). This premature translational stop signal has been observed in individual(s) with tuberous sclerosis (PMID: 11112665). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1033*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). |
Tuberous sclerosis database |
RCV000042998 | SCV000066796 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |