Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001216513 | SCV001388314 | likely pathogenic | Tuberous sclerosis 2 | 2020-04-08 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individuals with clinical features of tuberous sclerosis complex (PMID: 15595939, Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 49874). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 1027 of the TSC2 protein (p.Leu1027Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. |
| Tuberous sclerosis database |
RCV000043140 | SCV000066939 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |