ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3879+1G>A (rs746999970)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670383 SCV000795228 likely pathogenic Nemaline myopathy 2 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV000670383 SCV001208924 pathogenic Nemaline myopathy 2 2019-10-09 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 35 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs746999970, ExAC 0.005%). Disruption of this splice site has been observed in individuals affected with nemaline myopathy who carry a second pathogenic variant (PMID: 25205138, Invitae). ClinVar contains an entry for this variant (Variation ID: 554705). 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). For these reasons, this variant has been classified as Pathogenic.

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