ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.22716T>G (p.Tyr7572Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV004813027 SCV005423736 likely pathogenic Nemaline myopathy 2 2024-12-13 criteria provided, single submitter clinical testing The identified heterozygous variant in NEB gene is a null variant which is predicted to undergo NMD thus fulfilling PVS1 criteria and is also absent from normal population database[PM2]. It is identified in trans with another likely pathogenic variant [ c.1212_1232dup],hence classified as likely pathogenic

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