ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter)

dbSNP: rs483352988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218456 SCV001390338 pathogenic Beckwith-Wiedemann syndrome 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln230*) 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: 18395877, 26077438). ClinVar contains an entry for this variant (Variation ID: 132861). For these reasons, this variant has been classified as Pathogenic.

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