ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)

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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 RCV002848003 SCV003226487 pathogenic Beckwith-Wiedemann syndrome 2023-04-28 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. ClinVar contains an entry for this variant (Variation ID: 2024850). 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 results in a frameshift in the CDKN1C gene (p.Asp290Glufs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the CDKN1C protein and extend the protein by 3 additional amino acid residues.

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