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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