ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) (rs755863625)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667317 SCV000791748 pathogenic Nemaline myopathy 2 2017-05-23 criteria provided, single submitter clinical testing
Invitae RCV000667317 SCV000949478 pathogenic Nemaline myopathy 2 2019-01-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg8218Serfs*9) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs755863625, ExAC 0.009%). This variant has been observed in combination with another NEB variant in individuals affected with nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 552108). 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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