Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000802799 | SCV000942643 | uncertain significance | Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency; Charcot-Marie-Tooth disease axonal type 2U | 2018-10-05 | 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 not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 893 of the MARS protein (p.Ala893Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. |