Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003402390 | SCV004112518 | uncertain significance | CEP250-related disorder | 2023-09-28 | criteria provided, single submitter | clinical testing | The CEP250 c.7265delT variant is predicted to result in a frameshift and premature protein termination (p.Leu2422Argfs*113). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. While loss of function is a well established mechanism of disease in CEP250, this loss of function variant is located in the terminal exon and therefore the transcript is not expected to undergo nonsense mediated decay. Therefore, although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |