Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000690123 | SCV000817801 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2022-01-14 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MTMR2 protein function. ClinVar contains an entry for this variant (Variation ID: 569487). This variant has not been reported in the literature in individuals affected with MTMR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 504 of the MTMR2 protein (p.Phe504Ser). |
| Ambry Genetics | RCV002388226 | SCV002703639 | uncertain significance | Inborn genetic diseases | 2020-10-19 | criteria provided, single submitter | clinical testing | The p.F504S variant (also known as c.1511T>C), located in coding exon 13 of the MTMR2 gene, results from a T to C substitution at nucleotide position 1511. The phenylalanine at codon 504 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |