Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985879 | SCV001134513 | uncertain significance | not provided | 2019-03-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001024532 | SCV001186563 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-11-06 | criteria provided, single submitter | clinical testing | The p.I193T variant (also known as c.578T>C), located in coding exon 5 of the NBN gene, results from a T to C substitution at nucleotide position 578. The isoleucine at codon 193 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Genome- |
RCV001275522 | SCV002045174 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001275522 | SCV002151256 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2021-10-16 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 801236). This variant has not been reported in the literature in individuals affected with NBN-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 193 of the NBN protein (p.Ile193Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine. |
Natera, |
RCV001275522 | SCV001460737 | uncertain significance | Microcephaly, normal intelligence and immunodeficiency | 2020-09-16 | no assertion criteria provided | clinical testing |