Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000333880 | SCV000329813 | pathogenic | not provided | 2023-10-10 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 34490615, 33907317, 25217958) |
Fulgent Genetics, |
RCV000763028 | SCV000893495 | pathogenic | Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000333880 | SCV004297831 | pathogenic | not provided | 2023-05-16 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with clinical features of SETBP1-related conditions (PMID: 25217958, 33907317, 34490615). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 157560). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg626*) 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). |
Prevention |
RCV003895019 | SCV004710303 | pathogenic | SETBP1-related condition | 2023-12-06 | criteria provided, single submitter | clinical testing | The SETBP1 c.1876C>T variant is predicted to result in premature protein termination (p.Arg626*). This variant was reported in an individual with neurodevelopmental disorder (Coe. 2014. PubMed ID: 25217958; Morgan. 2021. PubMed ID: 33907317; van der Ven. 2021. PubMed ID: 34490615). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SETBP1 are expected to be pathogenic. This variant is interpreted as pathogenic. |
OMIM | RCV000144905 | SCV000191907 | pathogenic | Intellectual disability, autosomal dominant 29 | 2014-10-01 | no assertion criteria provided | literature only | |
Genome |
RCV000144905 | SCV001443459 | pathogenic | Intellectual disability, autosomal dominant 29 | 2018-04-06 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-04-06 and interpreted as Pathogenic. Variant was initially reported on 2017-06-20 by GTR ID of laboratory name Radbound UMC . The reporting laboratory might also submit to ClinVar. |