Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000521869 | SCV000617647 | likely pathogenic | not provided | 2023-03-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation, as the last 35 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 26077438, 20503313, 35954470, 10424811) |
Invitae | RCV000009291 | SCV004526444 | pathogenic | Beckwith-Wiedemann syndrome | 2023-03-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser282*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 18445). This premature translational stop signal has been observed in individuals with Beckwith-Wiedemann syndrome (PMID: 10424811, 19386358, 20503313). This variant is not present in population databases (gnomAD no frequency). |
OMIM | RCV000009291 | SCV000029509 | pathogenic | Beckwith-Wiedemann syndrome | 2010-06-01 | no assertion criteria provided | literature only |