Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232590 | SCV001405154 | pathogenic | DICER1-related tumor predisposition | 2023-08-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr1688Asnfs*12) in the DICER1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DICER1 are known to be pathogenic (PMID: 19556464, 21266384). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DICER1-related conditions. ClinVar contains an entry for this variant (Variation ID: 959274). For these reasons, this variant has been classified as Pathogenic. |