ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) (rs539819851)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668686 SCV000793328 likely pathogenic Nemaline myopathy 2 2017-08-10 criteria provided, single submitter clinical testing
Invitae RCV000668686 SCV001381679 pathogenic Nemaline myopathy 2 2019-08-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg6289*) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs539819851, ExAC 0.002%). This variant has not been reported in the literature in individuals with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 553276). 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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