ClinVar Miner

Submissions for variant NM_001081.4(CUBN):c.4301A>G (p.His1434Arg)

gnomAD frequency: 0.00004  dbSNP: rs147373223
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 RCV001957853 SCV002210082 uncertain significance Imerslund-Grasbeck syndrome 2021-11-17 criteria provided, single submitter clinical testing 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"). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. This variant is present in population databases (rs147373223, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1434 of the CUBN protein (p.His1434Arg).
Ambry Genetics RCV002562152 SCV003554258 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.4301A>G (p.H1434R) alteration is located in exon 29 (coding exon 29) of the CUBN gene. This alteration results from a A to G substitution at nucleotide position 4301, causing the histidine (H) at amino acid position 1434 to be replaced by an arginine (R). 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.