ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.1999A>G (p.Thr667Ala) (rs141089159)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000689499 SCV000817153 uncertain significance Imerslund-Gräsbeck syndrome 2018-09-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 667 of the CUBN protein (p.Thr667Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs141089159, ExAC 0.009%). 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: "Tolerated"; PolyPhen-2: "Possibly 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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