ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.53C>A (p.Ser18Ter)

gnomAD frequency: 0.00001  dbSNP: rs750091101
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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 RCV001061085 SCV001225817 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2019-12-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SOX2 gene (p.Ser18*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 300 amino acids of the SOX2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with bilateral anophthalmia (PMID: 17522144, 25542770). In at least one individual the variant was observed to be de novo. This variant disrupts the C-terminus of the SOX2 protein. Other variant(s) that disrupt this region (p.Gly31Alafs*23, p.Asn24Argfs*65) have been determined to be pathogenic (PMID: 18285410, 24804704, 26250054, 27206652, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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