Supplementary Table S1. Variation found in 56 ACMG genes in whole exome sequences of
232 individuals.
Whole exome sequences from 232 individuals representing 89 families were analyzed for rare
(MAF<0.01), nonsynonymous and splice variants and indels in the 56 genes on the ACMG list.1
We identified 249 distinct variants, some of which were seen in more than one individual. The
number and density of variants (number of variants/kb coding sequence) varied by gene. Some
genes had better sequencing coverage than others.
Supplementary Table S2. Discordant classification of variants among databases.
Three databases (HGMD,2,3 ClinVar,4,5 and Emory 6,7) were examined for classification of the
249 distinct variants identified in 232 individuals’ whole exome sequences. Of 48 variants
which were classified by more than one database, 22 variants were given discordant
classifications between databases. We then compared these database classifications to our
variant classifications derived from the Dorschner et al. method8 and found that variant
classifications given by the ClinVar and Emory databases but not HGMD were generally
consistent with our variant classifications. These results show the lack of consensus for variant
classification methodologies among currently available databases. (Abbreviations: DMDisease-causing (pathological) mutation, based on information from the literature; VUS-Variant
of Uncertain Significance; N/A- variant was not listed in this database).
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