Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002647546 | SCV003513855 | uncertain significance | Imerslund-Grasbeck syndrome | 2022-06-24 | criteria provided, single submitter | clinical testing | This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2842 of the CUBN protein (p.His2842Gln). This variant is present in population databases (rs192775509, gnomAD 0.007%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Fulgent Genetics, |
RCV005034794 | SCV005671648 | uncertain significance | Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign | 2024-03-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV005323374 | SCV005990241 | uncertain significance | Inborn genetic diseases | 2025-01-21 | criteria provided, single submitter | clinical testing | The c.8526C>G (p.H2842Q) alteration is located in exon 54 (coding exon 54) of the CUBN gene. This alteration results from a C to G substitution at nucleotide position 8526, causing the histidine (H) at amino acid position 2842 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |