ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6427A>T (p.Lys2143Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002310449 SCV002602435 likely pathogenic Nemaline myopathy 2 2022-01-02 criteria provided, single submitter clinical testing NM_001271208.1(NEB):c.6427A>T(K2143*) is expected to be pathogenic in the context of NEB-related nemaline myopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in NEB, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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