ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.479G>A (p.Trp160Ter)

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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 RCV002870678 SCV003222064 pathogenic Anophthalmia-microphthalmia syndrome 2022-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the OTX2 protein in which other variant(s) (p.Ala236Ser) have been determined to be pathogenic (Invitae). 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 unilateral anophthalmia or microphthalmia (PMID: 20486942). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp152*) in the OTX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 138 amino acid(s) of the OTX2 protein.

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