ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.872del (p.Pro291fs) (rs483352997)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237418 SCV001410177 likely pathogenic Beckwith-Wiedemann syndrome 2019-10-22 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the CDKN1C gene (p.Pro302Leufs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the CDKN1C protein and extend the protein by an additional 3 amino acids. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individuals affected with clinical features of Beckwith Wiedemann syndrome (PMID: 26077438, Invitae). This variant disrupts a region of the protein in which other variant(s) (p.Arg316Trp) have been observed in individuals with CDKN1C-related conditions (PMID: 10424811). This suggests that this may be a clinically significant region of the CDKN1C protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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