Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652562 | SCV000774432 | uncertain significance | Interstitial lung and liver disease; Charcot-Marie-Tooth disease, axonal, type 2u | 2017-12-15 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine with arginine at codon 889 of the MARS protein (p.Lys889Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs779548081, ExAC 0.002%). This variant has not been reported in the literature in individuals with MARS-related disease. 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. |