ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.9028G>A (p.Ala3010Thr)

dbSNP: rs756775921
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002022505 SCV002292353 uncertain significance Imerslund-Grasbeck syndrome 2022-07-09 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs756775921, gnomAD 0.01%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 3010 of the CUBN protein (p.Ala3010Thr). ClinVar contains an entry for this variant (Variation ID: 1502771). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function.

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