ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9689T>C (p.Met3230Thr) (rs760551196)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000549065 SCV000640903 uncertain significance Nemaline myopathy 2 2019-06-07 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 3230 of the NEB protein (p.Met3230Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs760551196, ExAC 0.01%). 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 (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 and their clinical significance is uncertain. 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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