ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.205del (p.Thr69fs)

dbSNP: rs2133785682
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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 RCV001907919 SCV002141376 pathogenic Beckwith-Wiedemann syndrome 2021-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr80Profs*192) in the CDKN1C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDKN1C are known to be pathogenic (PMID: 20503313). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This variant is not present in population databases (ExAC no frequency).

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