ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.385_386del (p.Gly129fs)

dbSNP: rs1560264452
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Critical Care, Department of Pediatrics, Cardinal Glennon Children's Hospital 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.

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