rs1665661372

Description

A heterozygous missense variant, NM_003108.3(SOX11):c.305C>T, has been identified in exon 1 of 1 of the SOX11 gene. The variant is predicted to result in a minor amino acid change from Alanine to Valine at position 102 of the protein (NM_003108.3(SOX11):p.(Ala102Val)). The Alanine residue at this position has very high conservation (100 vertebrates, UCSC), and is located within the HMG box functional domain. In-silico predictions for this variant are consistently pathogenic (Polyphen, SIFT, CADD, Mutation Taster). The variant is absent in population databases (gnomAD, dbSNP, 1000G) and has not previously been reported in clinical cases. Subsequent analysis of parental samples indicated this variant to be de novo. Based on the information available at the time of curation, this variant has been classified as LIKELY PATHOGENIC.