ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.3880-2A>G (rs1342507012)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672922 SCV000798078 likely pathogenic Nemaline myopathy 2 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV000672922 SCV000961547 pathogenic Nemaline myopathy 2 2018-07-23 criteria provided, single submitter clinical testing This sequence change affects an acceptor 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 not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with nemaline myopathy (PMID: 25205138). 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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