ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.4507-3T>C (rs747017871)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000811775 SCV000952061 uncertain significance Nemaline myopathy 2 2018-12-03 criteria provided, single submitter clinical testing This sequence change falls in intron 38 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 considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with NEB-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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