ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) (rs776059611)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668220 SCV000792788 likely pathogenic Nemaline myopathy 2 2017-07-14 criteria provided, single submitter clinical testing
Invitae RCV000668220 SCV001227086 pathogenic Nemaline myopathy 2 2020-01-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8280Serfs*2) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs776059611, ExAC 0.01%). This variant has been observed in individual(s) with congenital nemaline myopathy (PMID: 24725366). This variant is also known as c.24735_ 24736del in the literature. ClinVar contains an entry for this variant (Variation ID: 552874). 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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