ClinVar Miner

Submissions for variant NM_001008212.2(OPTN):c.626+4T>C

gnomAD frequency: 0.00001  dbSNP: rs1564360523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001052125 SCV001216319 uncertain significance Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 2022-06-04 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.003%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 848382). This variant has not been reported in the literature in individuals affected with OPTN-related conditions. This sequence change falls in intron 5 of the OPTN gene. It does not directly change the encoded amino acid sequence of the OPTN protein. It affects a nucleotide within the consensus splice site.

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