ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) (rs771731330)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464222 SCV000541745 likely benign Beckwith-Wiedemann syndrome 2019-12-31 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000664304 SCV000788233 benign Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies; Beckwith-Wiedemann syndrome due to CDKN1C mutation 2018-04-01 criteria provided, single submitter research The CDKN1C variant designated as NM_000076.2:c.353C>T (p.Pro118Leu) is classified as likely benign. The CDKN1C gene is a paternally imprinted gene. Maternally inherited pathogenic variants in the CDKN1C gene are associated with Beckwith-Wiedemann syndrome and IMAGE syndrome. However, missense variants associated with these syndromes are in different domains than the CDKN1C p.Pro118Leu missense variant (Arboleda et al 2012, PMID:22634751), indicating that this variant is less likely to cause disease. Additionally, the variant was maternally inherited in one observed patient who reported no clinical symptoms of Beckwith-Wiedemann syndrome or IMAGE syndrome after four decades of life. Bayesian analysis integrating this data (Tavtigian et al, 2018, PMID:29300386) gives less than 0.1% probability of pathogenicity, which is consistent with a classification of benign. This analysis was performed in conjunction with the family studies project as part of the University of Washington Find My Variant Study.

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