ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)

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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. RCV002310263 SCV002602247 likely pathogenic Nemaline myopathy 2 2021-12-24 criteria provided, single submitter clinical testing NM_001271208.1(NEB):c.23266_23269delAAAG(K7756Efs*4) 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002310263 SCV003285099 pathogenic Nemaline myopathy 2 2022-01-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys7756Glufs*4) in the NEB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138).

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