ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)

dbSNP: rs267606716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

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