ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.74C>T (p.Pro25Leu)

dbSNP: rs1564930749
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003079110 SCV003459893 uncertain significance Beckwith-Wiedemann syndrome 2022-05-31 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 36 of the CDKN1C protein (p.Pro36Leu). This variant has not been reported in the literature in individuals affected with CDKN1C-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive.
Baylor Genetics RCV003079110 SCV005057212 uncertain significance Beckwith-Wiedemann syndrome 2024-03-09 criteria provided, single submitter clinical testing

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