Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000626139 | SCV000746770 | uncertain significance | Charcot-Marie-Tooth disease type 2A2 | 2023-10-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002529779 | SCV003020627 | uncertain significance | Charcot-Marie-Tooth disease type 2 | 2023-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 519 of the MFN2 protein (p.Arg519Cys). This variant is present in population databases (no rsID available, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with MFN2-related conditions. ClinVar contains an entry for this variant (Variation ID: 522942). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MFN2 protein function. 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. |
Ambry Genetics | RCV003352943 | SCV004077571 | uncertain significance | Inborn genetic diseases | 2023-07-17 | criteria provided, single submitter | clinical testing | The c.1555C>T (p.R519C) alteration is located in exon 15 (coding exon 13) of the MFN2 gene. This alteration results from a C to T substitution at nucleotide position 1555, causing the arginine (R) at amino acid position 519 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Coban- |
RCV003483693 | SCV004231752 | uncertain significance | Multiple symmetric lipomatosis; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; | no assertion criteria provided | research |