ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) (rs267606716)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521869 SCV000617647 likely pathogenic not provided 2017-09-26 criteria provided, single submitter clinical testing The c.845 C>G nucleotide substitution, resulting in the S282X variant, in the CDKN1C gene has been reported previously in several individuals with Beckwith-Wiedemann syndrome, as have other nucleotide changes (c.845 C>A, c.845delC) that also result in the S282X nonsense variant (Lam et al, Romanelli et al., 2010; Brioude et al., 2015; Romanelli et al., 2009). This variant is predicted to cause loss of normal protein function through protein truncation. The S282X variant is not observed in large population cohorts (Lek et al., 2016). We interpret S282X as a likely pathogenic variant.
OMIM RCV000009291 SCV000029509 pathogenic Beckwith-Wiedemann syndrome 2010-06-01 no assertion criteria provided literature only

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