ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.244_245del (p.Leu82fs)

dbSNP: rs1553862971
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551841 SCV000644174 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2017-06-26 criteria provided, single submitter clinical testing This variant has been reported to be de novo in individuals affected with severe microphthalmia (PMID: 24804704). It has also been reported in individuals affected with anophthalmia (PMID: 24498598, 25542770). For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SOX2 gene (p.Leu82Valfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 223 amino acids of the SOX2 protein.
Revvity Omics, Revvity RCV000551841 SCV003821707 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2023-02-17 criteria provided, single submitter clinical testing

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