ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.704G>C (p.Arg235Pro) (rs752992672)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703197 SCV000832085 uncertain significance Imerslund-Gräsbeck syndrome 2018-06-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 235 of the CUBN protein (p.Arg235Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 are either unavailable or 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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