Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197943 | SCV001368728 | pathogenic | Lymphangiomyomatosis | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PS1,PP4. |
Invitae | RCV002514173 | SCV003443039 | pathogenic | Tuberous sclerosis 2 | 2021-12-24 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 50041). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is also known as p.Y1033fs. This premature translational stop signal has been observed in individual(s) with tuberous sclerosis complex (PMID: 17034546, 25927202). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1033*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). |
Tuberous sclerosis database |
RCV000043307 | SCV000067113 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |