Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001053191 | SCV001217438 | uncertain significance | Tuberous sclerosis 2 | 2019-03-17 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with proline at codon 219 of the TSC2 protein (p.Leu219Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 65337). This variant has been reported to affect TSC2 protein function (PMID: 21309039). 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. |
MGZ Medical Genetics Center | RCV001053191 | SCV002579265 | pathogenic | Tuberous sclerosis 2 | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000055561 | SCV000083785 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |