ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.150del (p.Thr51fs)

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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 RCV003026661 SCV003323608 pathogenic Anophthalmia-microphthalmia syndrome 2022-03-04 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr43Argfs*8) in the OTX2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OTX2 are known to be pathogenic (PMID: 15846561, 20486942, 22577225, 24167467). This variant has not been reported in the literature in individuals affected with OTX2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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