Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218456 | SCV001390338 | pathogenic | Beckwith-Wiedemann syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln230*) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Beckwith–Wiedemann syndrome (PMID: 18395877, 26077438). ClinVar contains an entry for this variant (Variation ID: 132861). For these reasons, this variant has been classified as Pathogenic. |