ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.278G>C (p.Trp93Ser)

dbSNP: rs2139529394
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV002251146 SCV002521592 uncertain significance Syndromic microphthalmia type 5 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.92; 3Cnet: 0.99). A different missense change at the same codon (p.Trp93Leu) has been reported to be associated with OTX2 related disorder (ClinVar ID: VCV001332784). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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