ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) (rs1554937847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000172983 SCV000951150 pathogenic Beckwith-Wiedemann syndrome 2018-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala213Glyfs*36) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in the literature in an individual affected with Beckwith–Wiedemann syndrome (PMID: 26077438). ClinVar contains an entry for this variant (Variation ID: 192353). Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). For these reasons, this variant has been classified as Pathogenic.
Centre de Recherche Saint Antoine, Université Pierre et Marie Curie RCV000172983 SCV000223734 pathogenic Beckwith-Wiedemann syndrome no assertion criteria provided not provided Converted during submission to Pathogenic.

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