ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3412A>C (p.Lys1138Gln)

dbSNP: rs1325425384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044177 SCV001207958 uncertain significance Imerslund-Grasbeck syndrome 2019-02-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 1138 of the CUBN protein (p.Lys1138Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. This variant has not been reported in the literature in individuals with CUBN-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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