ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.546del (p.Pro183fs)

gnomAD frequency: 0.00001  dbSNP: rs1848940003
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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 RCV001063087 SCV001227921 pathogenic Beckwith-Wiedemann syndrome 2022-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 857422). This premature translational stop signal has been observed in individual(s) with Beckwith-Wiedemann syndrome (PMID: 23197429). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Pro194Glnfs*78) 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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