ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.211G>A (p.Glu71Lys) (rs1337857330)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539742 SCV000646200 uncertain significance Multiple endocrine neoplasia, type 4 2017-06-08 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 71 of the CDKN1B protein (p.Glu71Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a CDKN1B-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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). In summary, this variant has uncertain impact on CDKN1B function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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