Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201086 | SCV000255915 | pathogenic | Tuberous sclerosis 2 | 2013-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201086 | SCV000944719 | pathogenic | Tuberous sclerosis 2 | 2023-10-16 | criteria provided, single submitter | clinical testing | This variant results in the deletion of part of exon 41 (c.5252_5252+19) of the TSC2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with tuberous sclerosis complex (PMID: 11112665, 21520333, 25498131). ClinVar contains an entry for this variant (Variation ID: 49366). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). This variant disrupts a region of the TSC2 protein in which other variant(s) (p.Ser1761Leufs*60) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV001557698 | SCV001779505 | pathogenic | not provided | 2020-04-27 | criteria provided, single submitter | clinical testing | Deletions involving coding exons of this gene are a known mechanism of disease (Stenson et al., 2014); Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 27406250, 11112665, 16981987) |
Genome- |
RCV000201086 | SCV002041029 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042626 | SCV000066420 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |