Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000694058 | SCV000822485 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2020-10-06 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MORC2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with glutamic acid at codon 398 of the MORC2 protein (p.Gly398Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |
Genome |
RCV000694058 | SCV000986735 | not provided | Charcot-Marie-Tooth disease axonal type 2Z | no assertion provided | phenotyping only | Variant interpretted as Uncertain significance and reported on 02/27/2018 by GTR ID Invitae. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |