ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.13059+4C>T (rs1253831275)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548047 SCV000640548 uncertain significance Nemaline myopathy 2 2019-05-14 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. By this naming convention, this sequence change falls in intron 85 of the NEB gene. It does not directly change the encoded amino acid sequence of the NEB protein. The frequency data for this variant in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with an NEB-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is an intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000548047 SCV001460866 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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