Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000204139 | SCV000669688 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-10-08 | criteria provided, single submitter | clinical testing | The p.Y179H variant (also known as c.535T>C), located in coding exon 5 of the MRE11A gene, results from a T to C substitution at nucleotide position 535. The tyrosine at codon 179 is replaced by histidine, an amino acid with similar 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. |
| Invitae | RCV001316325 | SCV001506939 | uncertain significance | Ataxia-telangiectasia-like disorder | 2022-06-25 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 179 of the MRE11 protein (p.Tyr179His). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. ClinVar contains an entry for this variant (Variation ID: 219920). 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 disruptive. 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. |
| Baylor Genetics | RCV003462373 | SCV004193854 | uncertain significance | Ataxia-telangiectasia-like disorder 1 | 2023-05-02 | criteria provided, single submitter | clinical testing |