ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9590C>T (p.Ala3197Val) (rs778131603)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000550554 SCV000640900 uncertain significance Nemaline myopathy 2 2017-06-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 3197 of the NEB protein (p.Ala3197Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs778131603, ExAC 0.001%). This variant has not been reported in the literature in individuals with an 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on NEB function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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