ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7956+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
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV001267678 SCV001445914 pathogenic Nemaline myopathy 2 2019-05-15 criteria provided, single submitter clinical testing This variant affects the canonical splice donor site of intron 57 and is therefore predicted to interfere with splicing and result in loss of normal protein function. This variant has not been previously reported or functionally characterized in the literature to our knowledge. It is absent from the ExAC and gnomAD population databases and thus is presumed to be rare. Multiple splice prediction tools suggest this variant is likely to interfere with normal splicing. Based on the available evidence, the c.7956+1G>A variant is classified as Pathogenic.

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