ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.6411C>A (p.Tyr2137Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002306961 SCV002604057 likely pathogenic Nemaline myopathy 2 2022-04-30 criteria provided, single submitter clinical testing NM_001271208.1(NEB):c.6411C>A(Y2137*) 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.
Baylor Genetics RCV004572232 SCV005052114 likely pathogenic Arthrogryposis multiplex congenita 6 2024-02-02 criteria provided, single submitter clinical testing

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