Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652562 | SCV000774432 | uncertain significance | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U | 2021-06-17 | 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. This variant has not been reported in the literature in individuals with MARS-related disease. This variant is present in population databases (rs779548081, ExAC 0.002%). 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. |