ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20941G>A (p.Val6981Met) (rs374961597)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703281 SCV000832176 uncertain significance Nemaline myopathy 2 2019-12-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 6981 of the NEB protein (p.Val6981Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs374961597, ExAC 0.06%). This variant has not been reported in the literature in individuals with NEB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; Align-GVGD: "Class C0"). 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.
Natera, Inc. RCV000703281 SCV001460607 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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