ClinVar Miner

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

dbSNP: rs1848973414
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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 RCV001218491 SCV001390373 uncertain significance Beckwith-Wiedemann syndrome 2019-05-13 criteria provided, single submitter clinical testing 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. 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. This variant has been reported to partially affect CDKN1C protein function (PMID: 9311733). 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 is not present in population databases (ExAC no frequency). 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.

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