Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380069 | SCV001578011 | pathogenic | Tuberous sclerosis 2 | 2021-11-10 | criteria provided, single submitter | clinical testing | This variant has been observed in individual(s) with clinical features of tuberous sclerosis (PMID: 10735580, 11112665). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 50192). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. This sequence change falls in intron 2 of the TSC2 gene. It does not directly change the encoded amino acid sequence of the TSC2 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). |
Gene |
RCV001843466 | SCV002102758 | pathogenic | not provided | 2022-02-28 | criteria provided, single submitter | clinical testing | Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and both splice predictors and evolutionary conservation support a deleterious effect, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 11112665, 10735580) |
Fulgent Genetics, |
RCV002496685 | SCV002813856 | likely pathogenic | Lymphangiomyomatosis; Isolated focal cortical dysplasia type II; Tuberous sclerosis 2 | 2022-01-09 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000043461 | SCV000067271 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |