ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)

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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 RCV003062319 SCV003439778 pathogenic Beckwith-Wiedemann syndrome 2023-07-07 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Ser282*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Beckwith-Wiedemann syndrome (PMID: 19386358, 20503313). ClinVar contains an entry for this variant (Variation ID: 2136973).

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