ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.194G>T (p.Arg65Leu)

dbSNP: rs1312652368
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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 RCV000688516 SCV000816132 uncertain significance Beckwith-Wiedemann syndrome 2018-05-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with leucine at codon 76 of the CDKN1C protein (p.Arg76Leu). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDKN1C-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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