Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV000506833 | SCV000605462 | pathogenic | not specified | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000793317 | SCV000932665 | pathogenic | Tuberous sclerosis 2 | 2018-08-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1714*) in the TSC2 gene. It is expected to result in an absent or disrupted protein product. 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: 49351). Loss-of-function variants in TSC2 are known to be pathogenic (PMID: 10205261, 17304050). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV000793317 | SCV002041018 | pathogenic | Tuberous sclerosis 2 | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Tuberous sclerosis database |
RCV000042611 | SCV000066405 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |