ClinVar Miner

Submissions for variant NM_004064.4(CDKN1B):c.271C>A (p.Pro91Thr) (rs769828807)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531563 SCV000646205 uncertain significance Multiple endocrine neoplasia, type 4 2017-05-02 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 91 of the CDKN1B protein (p.Pro91Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is present in population databases (rs769828807, ExAC 0.02%) but 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 C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001016396 SCV001177349 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-30 criteria provided, single submitter clinical testing Insufficient evidence

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