- Results of exome sequencing gene panel test of a young Saudi female.
| Gene (transcript) | Nucleotide (protein) | Zygosity | Described by | In silico parameters* | MAF** | Variant classification*** |
|---|---|---|---|---|---|---|
| KCNMA1 (NM_001161352.1) | c.2369C>T (p.Pro790Leu) | Heterozygous | Not described | 2/3 damaging, Highly conserved | Not reported | Uncertain significance (class 3) |
↵* the number of in silico pathogenicity prediction programs
↵** highest minor allele frequency (MAF) of delegate population (Exome Aggregation Consortium database (ExAC)).
↵*** It is classified as variant of uncertain significance (class 3) based on the recommendations that have been provided by the American College of Medical Genetics and Centogene organization.