ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12639+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 RCV001048805 SCV001212828 pathogenic Nemaline myopathy 2 2019-08-26 criteria provided, single submitter clinical testing This variant occurs in a region of NEB (Exons 82-105) consisting of three highly homologous 8-exon repeat units (exons 82-89, exons 90-97, exons 98-105). Sequence variants in this region can be detected, but this assay cannot determine which of the three repeat units is affected, and zygosity is often ambiguous. All variants in this region are reported relative to the exon 82-89 repeat. This sequence change affects the donor splice site in intron 83 of the NEB gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant has been reported in the literature in a family affected with a NEB-related disease (PMID: 25205138). In an affected individual, this variant was observed to occur in trans with a pathogenic truncating variant (http://www.dmd.nl/nmdb/). In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in NEB are known to be pathogenic (PMID: 25205138). Furthermore, this variant has been reported in an affected individual (PMID: 25205138). For these reasons, it has been classified as Pathogenic.

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