ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001051697 SCV001215865 pathogenic Beckwith-Wiedemann syndrome 2019-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala211Glyfs*26) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with CDKN1C-related conditions. 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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