Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001229700 | SCV001402154 | pathogenic | Tuberous sclerosis 1 | 2021-01-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with TSC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 956822). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala283Profs*35) in the TSC1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TSC1 are known to be pathogenic (PMID: 10227394, 17304050). |
Fulgent Genetics, |
RCV002497782 | SCV002780289 | likely pathogenic | Lymphangiomyomatosis; Tuberous sclerosis 1; Isolated focal cortical dysplasia type II | 2021-09-22 | criteria provided, single submitter | clinical testing |