ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.3085G>A (p.Asp1029Asn)

gnomAD frequency: 0.00002  dbSNP: rs376195863
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 RCV002623434 SCV003504601 uncertain significance Imerslund-Grasbeck syndrome 2022-03-21 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1029 of the CUBN protein (p.Asp1029Asn). This variant is present in population databases (rs376195863, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002611337 SCV003734305 uncertain significance Inborn genetic diseases 2022-10-27 criteria provided, single submitter clinical testing The c.3085G>A (p.D1029N) alteration is located in exon 22 (coding exon 22) of the CUBN gene. This alteration results from a G to A substitution at nucleotide position 3085, causing the aspartic acid (D) at amino acid position 1029 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.