Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001337645 | SCV001531254 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2022-01-23 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 624 of the NBN protein (p.Arg624Gly). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1034861). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV002412054 | SCV002723497 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-08-11 | criteria provided, single submitter | clinical testing | The p.R624G variant (also known as c.1870C>G), located in coding exon 12 of the NBN gene, results from a C to G substitution at nucleotide position 1870. The arginine at codon 624 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV004570804 | SCV005056211 | uncertain significance | Aplastic anemia | 2023-11-14 | criteria provided, single submitter | clinical testing |