ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9481G>A (p.Val3161Met) (rs1560693635)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000703861 SCV000832785 uncertain significance Nemaline myopathy 2 2018-01-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 3161 of the NEB protein (p.Val3161Met). The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). 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.

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