ClinVar Miner

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

dbSNP: rs483352988
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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.
Department of Pediatrics, Nagoya University Graduate School of Medicine RCV001218456 SCV005184303 pathogenic Beckwith-Wiedemann syndrome 2024-08-07 criteria provided, single submitter research The CDKN1C variant (NM_001122630.2:c.655C>T) is predicted to generate a termination codon at Gln219. This variant has been reported to be causative for Beckwith-Wiedemann syndrome (RCV001218456 in ClinVar, CM081208 in HGMD), without being reported in a large population database (http://gnomad.broadinstitute.org). Overall, the following ACMG criteria were applied in classifying this variant as Pathogenic: PVS1, PS2, PM2, PP4, and PP5.

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