ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.7390A>C (p.Thr2464Pro) (rs769747844)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000705399 SCV000834394 uncertain significance Imerslund-Gräsbeck syndrome 2018-01-11 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 2464 of the CUBN protein (p.Thr2464Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs769747844, ExAC 0.05%). This variant has not been reported in the literature in individuals with CUBN-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, 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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