ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.596del (p.Gly199fs)

dbSNP: rs1891902224
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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 RCV001045026 SCV001208855 pathogenic Anophthalmia-microphthalmia syndrome 2019-12-05 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the OTX2 protein. Other variant(s) that disrupt this region (p.Ser203*) have been determined to be pathogenic (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. This variant has not been reported in the literature in individuals with OTX2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the OTX2 gene (p.Gly191Alafs*15). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 99 amino acids of the OTX2 protein.

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