ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) (rs1553695209)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666891 SCV000791260 pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
Invitae RCV000666891 SCV001224341 pathogenic Nemaline myopathy 2 2019-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr6949Asnfs*16) in the NEB gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in families affected with nemaline myopathy (PMID: 25205138). ClinVar contains an entry for this variant (Variation ID: 551753). 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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