rs548838018

Description

This individual is homozygous for the c.6041A>T variant in the FREM2 gene, which results in the amino acid substitution of aspartic acid to valine at residue 2014, p.(Asp2014Val). The variant has not been reported in any population databases (i.e. gnomAD, ExAC, ESP or dbSNP). To our knowledge, this variant has not been previously reported in the literature or any disease specific databases. In silico analysis of pathogenicity (through Alamut Visual v2.13) is inconclusive regarding this change; MutationTaster and SIFT predicts it to be likely pathogenic whereas PolyPhen2 predicts this variant to be benign. This variant is considered to be a variant of uncertain clinical significance (VOUS) according to the ACMG guidelines (Evidence used: PM2).