ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs)

dbSNP: rs1848953740
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001242553 SCV001415648 pathogenic Beckwith-Wiedemann syndrome 2019-10-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val151Argfs*120) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). This variant has not been reported in the literature in individuals with CDKN1C-related conditions. 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.

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