ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.17118+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043979 SCV001207751 pathogenic Nemaline myopathy 2 2019-03-27 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 108 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 (rs747946275, ExAC 0.002%). This variant has been observed in combination with another NEB variant in an individual affected with nemaline myopathy (PMID: 22367672). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 22367672). 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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