ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.1924G>A (p.Asp642Asn)

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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 RCV003104683 SCV003781535 uncertain significance Imerslund-Grasbeck syndrome 2022-06-29 criteria provided, single submitter clinical testing 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 asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 642 of the CUBN protein (p.Asp642Asn). This variant is present in population databases (rs771587254, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected 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.

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