ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.16954A>G (p.Ile5652Val) (rs767425744)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538597 SCV000640590 uncertain significance Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 5652 of the NEB protein (p.Ile5652Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs767425744, ExAC 0.02%) but has not been reported in the literature in individuals with a NEB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. 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.
Natera, Inc. RCV000538597 SCV001456726 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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