ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) (rs200559481)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535054 SCV000640730 uncertain significance Nemaline myopathy 2 2019-09-24 criteria provided, single submitter clinical testing This sequence change replaces leucine with tryptophan at codon 7982 of the NEB protein (p.Leu7982Trp). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and tryptophan. This variant is present in population databases (rs200559481, ExAC 0.02%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 465573). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, 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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