ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs)

dbSNP: rs1554937726
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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 RCV000549523 SCV000623178 pathogenic Beckwith-Wiedemann syndrome 2022-01-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala251Glyfs*32) 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).

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