Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Kariminejad - |
RCV001836885 | SCV000927090 | pathogenic | Abnormality of the nervous system | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768469 | SCV004640891 | pathogenic | not provided | 2023-12-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg889*) in the SETBP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SETBP1 are known to be pathogenic (PMID: 21037274, 25217958). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with SETBP1-related conditions (PMID: 32345733). ClinVar contains an entry for this variant (Variation ID: 636309). For these reasons, this variant has been classified as Pathogenic. |