ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.586G>T (p.Gly196Ter)

dbSNP: rs397514463
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857357 SCV002127914 pathogenic Anophthalmia-microphthalmia syndrome 2021-10-24 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.Ser203*) 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. ClinVar contains an entry for this variant (Variation ID: 30027). This premature translational stop signal has been observed in individual(s) with microphthalmia, anophthalmia, coloboma spectrum (PMID: 19965921). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly188*) in the OTX2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 102 amino acid(s) of the OTX2 protein.
OMIM RCV000022927 SCV000044218 pathogenic Syndromic microphthalmia type 5 2010-02-01 no assertion criteria provided literature only

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