ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.1490-1G>A

dbSNP: rs1380793724
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001807993 SCV002058336 likely pathogenic Glaucoma 3, primary congenital, E 2022-01-03 criteria provided, single submitter clinical testing Canonical splice site: predicted to alter splicing and result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000004, PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana RCV001807993 SCV003936896 pathogenic Glaucoma 3, primary congenital, E no assertion criteria provided research

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