ClinVar Miner

Submissions for variant NM_003106.4(SOX2):c.384del (p.Gly129fs)

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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 RCV003030830 SCV003310655 pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome 2022-09-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SOX2 protein in which other variant(s) (p.Pro181Argfs*22) have been determined to be pathogenic (PMID: 22171155). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individual(s) with clinical features of SOX2-related conditions (PMID: 33914258). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly129Alafs*25) in the SOX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 189 amino acid(s) of the SOX2 protein.

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