Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000355861 | SCV000330123 | pathogenic | not provided | 2016-10-04 | criteria provided, single submitter | clinical testing | The c.1568delA pathogenic variant in the SETBP1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1568delA variant causes a frameshift starting with codon Histidine 523, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 32 of the new reading frame, denoted p.His523LeufsX32. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1568delA variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Protein truncating pathogenic variants downstream of this variant have been reported in the Human Gene Mutation Database in association with SETBP1-related disorders (Stenson et al., 2014), supporting the pathogenicity of more upstream truncating variants. We interpret c.1568delA as a pathogenic variant. |
Genome |
RCV000509457 | SCV000606938 | not provided | SETBP1-Related Disorder | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. | |
Genome |
RCV001265340 | SCV001443458 | pathogenic | Intellectual disability, autosomal dominant 29 | 2017-04-14 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2017-04-14 and interpreted as Pathogenic. Variant was initially reported on 2016-01-08 by GTR ID of laboratory name 26957. The reporting laboratory might also submit to ClinVar. |