ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter)

dbSNP: rs483352993
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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 RCV003502516 SCV004294089 pathogenic Beckwith-Wiedemann syndrome 2023-07-06 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Clinical features of Beckwith–Wiedemann syndrome (PMID: 26077438, 34065128). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser244*) 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.
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004696850 SCV005197429 pathogenic not provided 2024-02-09 criteria provided, single submitter clinical testing

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