ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)

dbSNP: rs797045445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192927 SCV000246943 pathogenic Beckwith-Wiedemann syndrome 2015-01-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401049 SCV004120923 pathogenic CDKN1C-related disorder 2022-10-11 criteria provided, single submitter clinical testing The CDKN1C c.694C>T variant is predicted to result in premature protein termination (p.Gln232*). This variant has been reported in patients with Beckwith-Wiedemann syndrome (Romanelli et al. 2010. PubMed ID: 20503313; Baker et al. 2020. PubMed ID: 32430359). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in CDKN1C are expected to be pathogenic. This variant is interpreted as pathogenic.

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