ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter)

dbSNP: rs771521201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644035 SCV000765724 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2018-01-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SOX2 gene (p.Tyr180*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 138 amino acids of the SOX2 protein. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Multiple downstream truncating variants have been reported in individuals with anophthalmia and/or microphthalmia including the variant p.Pro181Argfs*22, which has been determined to be pathogenic (PMID: 22171155). This suggests that deletion of this region of the SOX2 protein is causative of disease. This variant has been reported to be de novo in an individual affected with anophthalmia, microphthalmia and extra-ocular abnormalities (PMID: 19921648).

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