Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001215914 | SCV001387682 | pathogenic | Beckwith-Wiedemann syndrome | 2019-05-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CDKN1C-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Ala211Glyfs*38) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. |