Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493012 | SCV000581847 | pathogenic | not provided | 2017-04-25 | criteria provided, single submitter | clinical testing | The c.3791delC pathogenic variant in the TSC2 gene has been reported previously in association with TSC (TSC2 LOVD). The deletion causes a frameshift starting with codon Proline 1264, changes this amino acid to a Leucine residue and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Pro1264LeufsX61. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3791delC variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). |
Athena Diagnostics Inc | RCV000493012 | SCV000615903 | pathogenic | not provided | 2016-09-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000702623 | SCV000831483 | pathogenic | Tuberous sclerosis 2 | 2023-09-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 49568). This variant has not been reported in the literature in individuals affected with TSC2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1264Leufs*61) 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). |
Genome- |
RCV000702623 | SCV002040984 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Division of Genomic Medicine, |
RCV000702623 | SCV002549085 | pathogenic | Tuberous sclerosis 2 | 2022-07-17 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042828 | SCV000066624 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |