ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)

dbSNP: rs2494380076
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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 RCV003613475 SCV004459890 pathogenic Beckwith-Wiedemann syndrome 2023-04-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CDKN1C protein in which other variant(s) (p.Pro302Leufs*19) have been determined to be pathogenic (PMID: 26077438; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu285*) in the CDKN1C gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 32 amino acid(s) of the CDKN1C protein.

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