Population Prevalence of Deleterious SGCE Variants.

Tremor and Other Hyperkinetic Movements
M S LeDoux

Abstract

Myoclonus-Dystonia (M-D) is a pleiotropic neuropsychiatric disorder of variable penetrance. Pathogenic variants in SGCE, a maternally imprinted gene, are the most frequent known genetic cause of M-D. The population prevalence of SGCE-linked M-D is unknown, the pathogenicity of SGCE variants identified in patients with M-D may be indeterminant, and SGCE variants predicted to be deleterious by in silico analysis may appear in patients undergoing whole-exome or whole-genome sequencing for seemingly unrelated disorders. The Genome Aggregation Database (gnomAD) v2 provides variant data on 125,748 exomes and 15,708 genomes from unrelated individuals sequenced as part of various disease-specific and population genetic studies. SGCE variants included in the gnomAD v2 dataset were analyzed with Combined Annotation Dependent Depletion (CADD), and database for nonsynonymous single nucleotide polymorphisms' functional predictions (dbNSFP). We determined the frequency of annotated SGCE variants, ranked by scores of deleteriousness, within the gnomAD v2 dataset. Deleteriousness scores were compared to a subset of published disease associated SGCE pathogenic variants. Within gnomAD v2, there were 56, 408, and 1250 alleles harboring SGCE varia...Continue Reading

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Datasets Mentioned

BETA
ESP6500

Methods Mentioned

BETA
Exome Sequencing

Software Mentioned

MetaLR
Rare Exome Variant Ensemble Learner ( REVEL )
SIFT
Ensembl
MutationTaster
REVEL
dbNSFP
HDIV
pred
Polyphen2

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