Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201176 | SCV000255859 | pathogenic | Tuberous sclerosis 1 | 2014-09-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000201176 | SCV002242916 | pathogenic | Tuberous sclerosis 1 | 2021-11-29 | 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: 64834). This premature translational stop signal has been observed in individual(s) with clinical features of tuberous sclerosis complex (PMID: 21811971). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn891Thrfs*40) 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). |
Tuberous sclerosis database |
RCV000055029 | SCV000083247 | not provided | Tuberous sclerosis syndrome | no assertion provided | curation |