Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822676 | SCV000963486 | uncertain significance | Ataxia-telangiectasia-like disorder | 2018-11-17 | 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 with MRE11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with proline at codon 388 of the MRE11 protein (p.Arg388Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. |
Ambry Genetics | RCV001010067 | SCV001170211 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-06-01 | criteria provided, single submitter | clinical testing | The p.R388P variant (also known as c.1163G>C), located in coding exon 10 of the MRE11A gene, results from a G to C substitution at nucleotide position 1163. The arginine at codon 388 is replaced by proline, an amino acid with dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Baylor Genetics | RCV003467512 | SCV004193789 | uncertain significance | Ataxia-telangiectasia-like disorder 1 | 2023-09-26 | criteria provided, single submitter | clinical testing |