ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2416-1G>C (rs1553565278)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672789 SCV000797931 likely pathogenic Nemaline myopathy 2 2018-02-15 criteria provided, single submitter clinical testing
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego RCV000672789 SCV000996050 likely pathogenic Nemaline myopathy 2 2016-10-03 criteria provided, single submitter clinical testing This canonical splice acceptor variant is predicted to alter the function of the protein. This variant was not found in the 1000 Genomes, Exome Variant Server (EVS), and Exome Aggregation Corsotium (ExAC) databases. Thus, it is presumed to be rare. The genomic position is highly conserved and in silico splicing algorithms predict the variant alters splicing mechanisms. Although this particular variant is unreported in the literature, splice site variants are well established as disease causing in the NEB gene (PMID: 25205138). Based on the available evidence, the c.2416-1G>C variant is classified as a likely pathogenic variant.

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