ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.516del (p.Leu172fs)

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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 RCV003646451 SCV004435161 pathogenic Anophthalmia-microphthalmia syndrome 2023-02-04 criteria provided, single submitter clinical testing 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. For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with OTX2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu164Phefs*14) in the OTX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 126 amino acid(s) of the OTX2 protein.

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