ClinVar Miner

Submissions for variant NM_021728.4(OTX2):c.130del (p.Arg44fs)

dbSNP: rs758119168
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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 RCV001387780 SCV001588496 pathogenic Anophthalmia-microphthalmia syndrome 2020-06-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OTX2 are known to be pathogenic (PMID: 15846561, 20486942, 22577225, 24167467). This variant has been observed in individual(s) with otocephaly (PMID: 22577225). This variant is also known as c.130delC p.Arg44GlyfsX15 in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg36Glyfs*15) in the OTX2 gene. It is expected to result in an absent or disrupted protein product.

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