ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) (rs200918570)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546711 SCV000640702 uncertain significance Nemaline myopathy 2 2017-01-05 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 7383 of the NEB protein (p.Val7383Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency) and 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not available"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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