ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)

dbSNP: rs1848977725
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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 RCV001059990 SCV001224647 pathogenic Beckwith-Wiedemann syndrome 2019-11-25 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 42 of the CDKN1C protein (p.Leu42Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect CDKN1C protein function (PMID: 22634751, 25861374, 26077438). This variant has been observed in individual(s) with Beckwith-Wiedemann syndrome (BWS) or clinical features of BWS (PMID: 11414765, 26077438, Invitae).

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