Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV004421686 | SCV004903844 | uncertain significance | Inborn genetic diseases | 2024-12-04 | criteria provided, single submitter | clinical testing | The p.F612V variant (also known as c.1834T>G), located in coding exon 8 of the MECOM gene, results from a T to G substitution at nucleotide position 1834. The phenylalanine at codon 612 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV005065068 | SCV005710657 | uncertain significance | not provided | 2024-06-03 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 424 of the MECOM protein (p.Phe424Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MECOM-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Department of Pathology and Laboratory Medicine, |
RCV005392783 | SCV006053906 | likely benign | Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 | 2020-06-02 | criteria provided, single submitter | research |