Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000225986 | SCV000285359 | likely pathogenic | Tuberous sclerosis 2 | 2016-02-25 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 30 of the TSC2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in an individual with a TSC2-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic. |