ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.658_659delinsG (p.Leu220fs)

dbSNP: rs1566622642
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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 RCV000705232 SCV000834221 pathogenic Anophthalmia-microphthalmia syndrome 2023-02-14 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the OTX2 gene (p.Leu212Valfs*82). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acid(s) of the OTX2 protein and extend the protein by 4 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with OTX2-related conditions. 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.

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