Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000550414 | SCV000651620 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2O | 2017-01-10 | criteria provided, single submitter | clinical testing | In summary, this variant is a novel missense change with uncertain impact on protein function. 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: "Benign"; Align-GVGD: "Class C65"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a DYNC1H1-related disease. This sequence change replaces asparagine with lysine at codon 4573 of the DYNC1H1 protein (p.Asn4573Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. |