ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) (rs763365852)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534184 SCV000640733 uncertain significance Nemaline myopathy 2 2016-10-31 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 8042 of the NEB protein (p.Ser8042Leu). The serine residue is weakly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs763365852, ExAC 0.06%) but has not been reported in the literature in individuals with a 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 variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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