ClinVar Miner

Submissions for variant NC_000010.10:g.(?_13152353)_(13162081_?)del

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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 RCV003109855 SCV003791858 likely pathogenic Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-05-05 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 and exons 4-6 (c.252_779+1047del) of the OPTN gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OPTN are known to be pathogenic (PMID: 20428114). This variant has not been reported in the literature in individuals affected with OPTN-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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