ClinVar Miner

Submissions for variant NM_000459.5(TEK):c.470_471insTGGT (p.Lys157fs)

dbSNP: rs2131141182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808096 SCV002058565 likely pathogenic Glaucoma 3, primary congenital, E 2022-01-03 criteria provided, single submitter clinical testing Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (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 RCV001808096 SCV003936894 pathogenic Glaucoma 3, primary congenital, E no assertion criteria provided research

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