Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000329353 | SCV000330546 | pathogenic | not provided | 2016-05-18 | criteria provided, single submitter | clinical testing | The c.833delC pathogenic variant in the SRCAP gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.833delC variant causes a frameshift starting with codon Proline 278, changes this amino acid to a Leucine residue, and creates a premature Stop codon at position 102 of the new reading frame, denoted p.Pro278LeufsX102. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.833delC 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. We interpret c.833delC as a pathogenic variant. |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001391086 | SCV001477328 | likely pathogenic | Neurodevelopmental disorder | 2021-01-10 | no assertion criteria provided | research |