Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001246667 | SCV001420040 | uncertain significance | Imerslund-Grasbeck syndrome | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 926 of the CUBN protein (p.Ser926Arg). This variant is present in population databases (rs371127860, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with CUBN-related conditions. ClinVar contains an entry for this variant (Variation ID: 970993). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CUBN 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, |
RCV002484382 | SCV002785818 | uncertain significance | Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign | 2022-04-27 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004034869 | SCV004853437 | uncertain significance | Inborn genetic diseases | 2023-12-14 | criteria provided, single submitter | clinical testing | The c.2778T>G (p.S926R) alteration is located in exon 20 (coding exon 20) of the CUBN gene. This alteration results from a T to G substitution at nucleotide position 2778, causing the serine (S) at amino acid position 926 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |