Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000766970 | SCV000243724 | uncertain significance | not provided | 2023-06-16 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 24728327) |
Invitae | RCV002514612 | SCV003521355 | uncertain significance | Tuberous sclerosis 2 | 2023-12-22 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the TSC2 gene. It does not change the encoded amino acid sequence of the TSC2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs587778004, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 133423). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Baylor Genetics | RCV003467065 | SCV004205116 | uncertain significance | Isolated focal cortical dysplasia type II | 2022-09-02 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000119926 | SCV000084056 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |