ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18367-1_18370del (rs1553770146)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531403 SCV000640618 likely pathogenic Nemaline myopathy 2 2016-08-22 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 116 of the NEB gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with a NEB-related disease. While this particular variant has not been reported in the literature, truncating variants in NEB are known to be pathogenic (PMID: 25205138). Nucleotide substitutions within the consensus splice site are relatively common causes of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. For these reasons, this variant has been classified as Likely Pathogenic.

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