Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Division of Critical Care, |
RCV000735864 | SCV000863977 | pathogenic | Anophthalmia/microphthalmia-esophageal atresia syndrome | 2018-08-31 | criteria provided, single submitter | clinical testing | This is the first report of the p.Gly129Argfs*9 variant in SOX2. The patient has all the typical features of syndromic microphthlamia including bilateral anophthalmia and developmental delay and is heterozygous for this mutation. Previous reports of SOX2-related anopthlamia syndrome have shown an autosomal dominant pattern. The early frameshift with early termination codon would be predicted to result in loss of function from this allele. |