ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.152_160del (p.Asp51_Phe54delinsVal)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001218491 SCV001390373 uncertain significance Beckwith-Wiedemann syndrome 2019-05-21 criteria provided, single submitter clinical testing This variant, c.185_193del, results in the deletion of three and insertion of one amino acid(s) of the CDKN1C protein (p.Asp62_Phe65delinsVal), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Beckwith-Wiedemann syndrome (PMID: 9311733). This variant is also known as deletion of 9 nt (445 453 cDNA) in the literature. This variant has been reported to partially affect CDKN1C protein function (PMID: 9311733). This variant disrupts the p.Tyr63 amino acid residue in CDKN1C. Other variant(s) that disrupt this residue have been observed in individuals with CDKN1C-related conditions (PMID: 22140035, 27436784), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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