ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24219+1G>A (rs755239192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000625834 SCV000790290 likely pathogenic Nemaline myopathy 2 2017-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000387492 SCV000329654 pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing The c.24219+1G>A pathogenic variant in the NEB gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 170. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.24219+1G>A variant was not observed in approximately 2300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.24219+1G>A as a pathogenic variant.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000625834 SCV000746397 pathogenic Nemaline myopathy 2 2017-12-03 criteria provided, single submitter clinical testing

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