ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11806-1G>A (rs886041851)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000277796 SCV000330628 pathogenic not provided 2018-08-30 criteria provided, single submitter clinical testing The c.11806-1G>A variant in the NEB gene has been reported previously in the homozygous state in a fetus presenting with akinesia (Monies et al., 2017). This splice site variant destroys the canonical splice acceptor site in intron 78. It is predicted to cause abnormal gene splicing. The c.11806-1G>A variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.11806-1G>A as a pathogenic variant.
Invitae RCV001214721 SCV001386420 likely pathogenic Nemaline myopathy 2 2019-05-13 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 78 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with fetal akinesia (PMID: 28600779). ClinVar contains an entry for this variant (Variation ID: 280692). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in NEB are known to be pathogenic (PMID: 25205138). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Natera, Inc. RCV001214721 SCV001459398 pathogenic Nemaline myopathy 2 2020-09-16 no assertion criteria provided clinical testing

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