ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) (rs1289511955)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538471 SCV000640699 uncertain significance Nemaline myopathy 2 2017-07-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 7341 of the NEB protein (p.Ala7341Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. 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"; PolyPhen-2: "Unavailable"; 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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