ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics Laboratory, West China Hospital, Sichuan University RCV001256185 SCV001422501 pathogenic Beckwith-Wiedemann syndrome criteria provided, single submitter clinical testing In a couple recurrently conceived fetuses with omphalocele, a deletion-insertion (delins) variation of c.637_652 delins CCC in the CDKN1C gene was identified heterozygously from the wife. This delins variant results in a frame-shift mutation (p.A213pfs*55), causing loss of function (LOF), for the CDKN1C encoded protein. CDKN1C locates in the region 11p15 and it is paternally imprinted in humans with preferential expression of the maternal allele. Maternally inherited CDKN1C-LOF mutation is found to contribute to Beckwith-Wiedemann Syndrome (BWS), the first manifestation of which is omphalocele.

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