ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.5357A>C (p.Glu1786Ala)

gnomAD frequency: 0.00004  dbSNP: rs748558881
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001981192 SCV002280298 uncertain significance Imerslund-Grasbeck syndrome 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1786 of the CUBN protein (p.Glu1786Ala). 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs748558881, gnomAD 0.01%).
Fulgent Genetics, Fulgent Genetics RCV002497984 SCV002814786 uncertain significance Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 2022-04-21 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.