ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) (rs752582527)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674303 SCV000799617 likely pathogenic Nemaline myopathy 2 2018-05-01 criteria provided, single submitter clinical testing
Invitae RCV000674303 SCV000832584 pathogenic Nemaline myopathy 2 2018-05-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8156Serfs*9) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752582527, ExAC 0.1%). This variant has not been reported in the literature in individuals with NEB-related disease. Loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). For these reasons, this variant has been classified as Pathogenic.

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