ClinVar Miner

Submissions for variant NM_000076.2(CDKN1C):c.189_190insTTCCAGCTGG (p.Asp64fs) (rs1554938197)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000628545 SCV000749447 pathogenic Beckwith-Wiedemann syndrome 2017-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp64Phefs*64) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1C-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). For these reasons, this variant has been classified as Pathogenic.

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