ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) (rs928945364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000590386 SCV000697804 pathogenic Nemaline myopathy 2016-09-09 criteria provided, single submitter clinical testing Variant summary: The NEB c.11164C>T (p.Arg3722X) variant results in a premature termination codon, predicted to cause a truncated or absent NEB protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Mutation taster predicts a damaging outcome for this variant. It is absent in 26806 control chromosomes while it was observed in affected patients in compound heterozygosity with other pathogenic NEB variants indicating causality. Taken together, this variant is classified as pathogenic.
Counsyl RCV000674606 SCV000799972 pathogenic Nemaline myopathy 2 2018-05-15 criteria provided, single submitter clinical testing

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