ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641326 SCV000762967 uncertain significance Nemaline myopathy 2 2018-09-26 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 7230 of the NEB protein (p.Thr7230Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine 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. ClinVar contains an entry for this variant (Variation ID: 533984). 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, 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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