Additional file 7 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Additional file 7: Table S6. Percent reduction of genotypes of unknown significance (GUS) with activity-based severity data. Burdens for each MLD subtype were predicted using allele frequencies from gnomAD and our phenotype matrix. Frequencies of unknown genotypes are reported across various populations. Calculations were performed using patient-based severity, as defined by our variant-severity criteria, and repeated using activity-based severity determined by MS/MS. Both one-in incidences and allele frequencies are provided, and the percent reduction in GUS when activity-based severity data are used instead of patient-based severity is shown. Classifying VUS by activity-based severity greatly reduces the number of genotypes with indeterminant phenotypes. gnomAD, Genome Aggregation Database; GUS, genotypes of unknown significance; MS/MS, tandem mass spectrometry; NFE, non-Finnish European; VUS, variants of unknown significance.